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{{Infobox_gene}}
{{PBB_Controls
'''Phosphomannomutase 2''' is an [[enzyme]] that in humans is encoded by the ''PMM2'' [[gene]].<ref name="pmid9140401">{{cite journal | vauthors = Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E | title = Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) | journal = Nature Genetics | volume = 16 | issue = 1 | pages = 88–92 | date = May 1997 | pmid = 9140401 | pmc =  | doi = 10.1038/ng0597-88 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PMM2 phosphomannomutase 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5373| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_PMM2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2amy.
| PDB = {{PDB2|2amy}}
| Name = Phosphomannomutase 2
| HGNCid = 9115
| Symbol = PMM2
| AltSymbols =; CDG1; CDG1a; CDGS
| OMIM = 601785
| ECnumber = 
| Homologene = 257
| MGIid = 1859214
| GeneAtlas_image1 = PBB_GE_PMM2_203201_at_tn.png
| Function = {{GNF_GO|id=GO:0004615 |text = phosphomannomutase activity}} {{GNF_GO|id=GO:0016853 |text = isomerase activity}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0006487 |text = protein amino acid N-linked glycosylation}} {{GNF_GO|id=GO:0008152 |text = metabolic process}} {{GNF_GO|id=GO:0009298 |text = GDP-mannose biosynthetic process}} {{GNF_GO|id=GO:0019307 |text = mannose biosynthetic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5373
    | Hs_Ensembl = ENSG00000140650
    | Hs_RefseqProtein = NP_000294
    | Hs_RefseqmRNA = NM_000303
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 16
    | Hs_GenLoc_start = 8799193
    | Hs_GenLoc_end = 8850684
    | Hs_Uniprot = O15305
    | Mm_EntrezGene = 54128
    | Mm_Ensembl = ENSMUSG00000022711
    | Mm_RefseqmRNA = NM_016881
    | Mm_RefseqProtein = NP_058577
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 16
    | Mm_GenLoc_start = 8553047
    | Mm_GenLoc_end = 8572870
    | Mm_Uniprot = Q545N8
  }}
}}
'''Phosphomannomutase 2''', also known as '''PMM2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PMM2 phosphomannomutase 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5373| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
Phosphomannomutase 2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate.  Mannose 1-phosphate is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides.  Mutations in the gene have been shown to cause defects in the protein glycosylation pathway which manifest as [[congenital disorder of glycosylation]] type Ia.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = Phosphomannomutase 2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate.  Mannose 1-phosphate is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides.  Mutations in the gene have been shown to cause defects in the protein glycosylation pathway manifest as carbohydrate-deficient glycoprotein syndrome type I.<ref name="entrez">{{cite web | title = Entrez Gene: PMM2 phosphomannomutase 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5373| accessdate = }}</ref>
}}


==References==
== References ==
{{reflist|2}}
{{reflist}}
==Further reading==
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Matthijs G, Schollen E, Heykants L, Grünewald S | title = Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia) | journal = Molecular Genetics and Metabolism | volume = 68 | issue = 2 | pages = 220–6 | date = October 1999 | pmid = 10527672 | doi = 10.1006/mgme.1999.2914 }}
| citations =
* {{cite journal | vauthors = Jaeken J, Matthijs G | title = Congenital disorders of glycosylation | journal = Annual Review of Genomics and Human Genetics | volume = 2 | issue =  | pages = 129–51 | year = 2002 | pmid = 11701646 | doi = 10.1146/annurev.genom.2.1.129 }}
*{{cite journal | author=Matthijs G, Schollen E, Heykants L, Grünewald S |title=Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). |journal=Mol. Genet. Metab. |volume=68 |issue= 2 |pages= 220-6 |year= 2000 |pmid= 10527672 |doi= 10.1006/mgme.1999.2914 }}
* {{cite journal | vauthors = Martinsson T, Bjursell C, Stibler H, Kristiansson B, Skovby F, Jaeken J, Blennow G, Strömme P, Hanefeld F, Wahlström J | title = Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406 | journal = Human Molecular Genetics | volume = 3 | issue = 11 | pages = 2037–42 | date = November 1994 | pmid = 7874123 | doi =  }}
*{{cite journal | author=Jaeken J, Matthijs G |title=Congenital disorders of glycosylation. |journal=Annual review of genomics and human genetics |volume=2 |issue=  |pages= 129-51 |year= 2002 |pmid= 11701646 |doi= 10.1146/annurev.genom.2.1.129 }}
* {{cite journal | vauthors = Matthijs G, Schollen E, Pirard M, Budarf ML, Van Schaftingen E, Cassiman JJ | title = PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13 | journal = Genomics | volume = 40 | issue = 1 | pages = 41–7 | date = February 1997 | pmid = 9070917 | doi = 10.1006/geno.1996.4536 }}
*{{cite journal | author=Martinsson T, Bjursell C, Stibler H, ''et al.'' |title=Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. |journal=Hum. Mol. Genet. |volume=3 |issue= 11 |pages= 2037-42 |year= 1995 |pmid= 7874123 |doi=  }}
* {{cite journal | vauthors = Schollen E, Pardon E, Heykants L, Renard J, Doggett NA, Callen DF, Cassiman JJ, Matthijs G | title = Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene | journal = Human Molecular Genetics | volume = 7 | issue = 2 | pages = 157–64 | date = February 1998 | pmid = 9425221 | doi = 10.1093/hmg/7.2.157 }}
*{{cite journal | author=Matthijs G, Schollen E, Pirard M, ''et al.'' |title=PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13. |journal=Genomics |volume=40 |issue= 1 |pages= 41-7 |year= 1997 |pmid= 9070917 |doi= 10.1006/geno.1996.4536 }}
* {{cite journal | vauthors = Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J | title = Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A | journal = American Journal of Human Genetics | volume = 62 | issue = 3 | pages = 542–50 | date = March 1998 | pmid = 9497260 | pmc = 1376957 | doi = 10.1086/301763 }}
*{{cite journal | author=Matthijs G, Schollen E, Pardon E, ''et al.'' |title=Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). |journal=Nat. Genet. |volume=16 |issue= 1 |pages= 88-92 |year= 1997 |pmid= 9140401 |doi= 10.1038/ng0597-88 }}
* {{cite journal | vauthors = Kjaergaard S, Skovby F, Schwartz M | title = Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1 | journal = European Journal of Human Genetics | volume = 6 | issue = 4 | pages = 331–6 | year = 1998 | pmid = 9781039 | doi = 10.1038/sj.ejhg.5200194 }}
*{{cite journal | author=Schollen E, Pardon E, Heykants L, ''et al.'' |title=Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene. |journal=Hum. Mol. Genet. |volume=7 |issue= 2 |pages= 157-64 |year= 1998 |pmid= 9425221 |doi= }}
* {{cite journal | vauthors = Bjursell C, Wahlström J, Berg K, Stibler H, Kristiansson B, Matthijs G, Martinsson T | title = Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families | journal = European Journal of Human Genetics | volume = 6 | issue = 6 | pages = 603–11 | year = 1999 | pmid = 9887379 | doi = 10.1038/sj.ejhg.5200234 }}
*{{cite journal | author=Matthijs G, Schollen E, Van Schaftingen E, ''et al.'' |title=Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. |journal=Am. J. Hum. Genet. |volume=62 |issue= 3 |pages= 542-50 |year= 1998 |pmid= 9497260 |doi= }}
* {{cite journal | vauthors = Kondo I, Mizugishi K, Yoneda Y, Hashimoto T, Kuwajima K, Yuasa I, Shigemoto K, Kuroda Y | title = Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1 | journal = Clinical Genetics | volume = 55 | issue = 1 | pages = 50–4 | date = January 1999 | pmid = 10066032 | doi = 10.1034/j.1399-0004.1999.550109.x }}
*{{cite journal | author=Kjaergaard S, Skovby F, Schwartz M |title=Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. |journal=Eur. J. Hum. Genet. |volume=6 |issue= 4 |pages= 331-6 |year= 1998 |pmid= 9781039 |doi= 10.1038/sj.ejhg.5200194 }}
* {{cite journal | vauthors = Vuillaumier-Barrot S, Barnier A, Cuer M, Durand G, Grandchamp B, Seta N | title = Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping | journal = Human Mutation | volume = 14 | issue = 6 | pages = 543–4 | date = December 1999 | pmid = 10571956 | doi = 10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S }}
*{{cite journal | author=Bjursell C, Wahlström J, Berg K, ''et al.'' |title=Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families. |journal=Eur. J. Hum. Genet. |volume=6 |issue= 6 |pages= 603-11 |year= 1999 |pmid= 9887379 |doi= 10.1038/sj.ejhg.5200234 }}
* {{cite journal | vauthors = Kjaergaard S, Skovby F, Schwartz M | title = Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli | journal = European Journal of Human Genetics | volume = 7 | issue = 8 | pages = 884–8 | date = December 1999 | pmid = 10602363 | doi = 10.1038/sj.ejhg.5200398 }}
*{{cite journal | author=Kondo I, Mizugishi K, Yoneda Y, ''et al.'' |title=Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. |journal=Clin. Genet. |volume=55 |issue= 1 |pages= 50-4 |year= 1999 |pmid= 10066032 |doi= }}
* {{cite journal | vauthors = Imtiaz F, Worthington V, Champion M, Beesley C, Charlwood J, Clayton P, Keir G, Mian N, Winchester B | title = Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1 | journal = Journal of Inherited Metabolic Disease | volume = 23 | issue = 2 | pages = 162–74 | date = March 2000 | pmid = 10801058 | doi = 10.1023/A:1005669900330 }}
*{{cite journal  | author=Vuillaumier-Barrot S, Barnier A, Cuer M, ''et al.'' |title=Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping. |journal=Hum. Mutat. |volume=14 |issue= 6 |pages= 543-4 |year= 1999 |pmid= 10571956 |doi= 10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S }}
* {{cite journal | vauthors = Vuillaumier-Barrot S, Hetet G, Barnier A, Dupré T, Cuer M, de Lonlay P, Cormier-Daire V, Durand G, Grandchamp B, Seta N | title = Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients | journal = Journal of Medical Genetics | volume = 37 | issue = 8 | pages = 579–80 | date = August 2000 | pmid = 10922383 | pmc = 1734666 | doi = 10.1136/jmg.37.8.579 }}
*{{cite journal | author=Kjaergaard S, Skovby F, Schwartz M |title=Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. |journal=Eur. J. Hum. Genet. |volume=7 |issue= 8 |pages= 884-8 |year= 2000 |pmid= 10602363 |doi= 10.1038/sj.ejhg.5200398 }}
* {{cite journal | vauthors = Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B | title = Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia) | journal = Human Mutation | volume = 16 | issue = 5 | pages = 386–94 | date = November 2000 | pmid = 11058895 | doi = 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y }}
*{{cite journal | author=Imtiaz F, Worthington V, Champion M, ''et al.'' |title=Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. |journal=J. Inherit. Metab. Dis. |volume=23 |issue= 2 |pages= 162-74 |year= 2000 |pmid= 10801058 |doi= }}
* {{cite journal | vauthors = Bjursell C, Erlandson A, Nordling M, Nilsson S, Wahlström J, Stibler H, Kristiansson B, Martinsson T | title = PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families | journal = Human Mutation | volume = 16 | issue = 5 | pages = 395–400 | date = November 2000 | pmid = 11058896 | doi = 10.1002/1098-1004(200011)16:5<395::AID-HUMU3>3.0.CO;2-T }}
*{{cite journal | author=Vuillaumier-Barrot S, Hetet G, Barnier A, ''et al.'' |title=Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients. |journal=J. Med. Genet. |volume=37 |issue= 8 |pages= 579-80 |year= 2000 |pmid= 10922383 |doi= }}
* {{cite journal | vauthors = Westphal V, Enns GM, McCracken MF, Freeze HH | title = Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry | journal = Molecular Genetics and Metabolism | volume = 73 | issue = 1 | pages = 71–6 | date = May 2001 | pmid = 11350185 | doi = 10.1006/mgme.2001.3174 }}
*{{cite journal  | author=Matthijs G, Schollen E, Bjursell C, ''et al.'' |title=Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). |journal=Hum. Mutat. |volume=16 |issue= 5 |pages= 386-94 |year= 2000 |pmid= 11058895 |doi= 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y }}
* {{cite journal | vauthors = Heykants L, Schollen E, Grünewald S, Matthijs G | title = Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2 | journal = Gene | volume = 270 | issue = 1-2 | pages = 53–9 | date = May 2001 | pmid = 11404002 | doi = 10.1016/S0378-1119(01)00481-4 }}
*{{cite journal | author=Bjursell C, Erlandson A, Nordling M, ''et al.'' |title=PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families. |journal=Hum. Mutat. |volume=16 |issue= 5 |pages= 395-400 |year= 2000 |pmid= 11058896 |doi= 10.1002/1098-1004(200011)16:5<395::AID-HUMU3>3.0.CO;2-T }}
*{{cite journal | author=Westphal V, Enns GM, McCracken MF, Freeze HH |title=Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. |journal=Mol. Genet. Metab. |volume=73 |issue= 1 |pages= 71-6 |year= 2001 |pmid= 11350185 |doi= 10.1006/mgme.2001.3174 }}
*{{cite journal  | author=Heykants L, Schollen E, Grünewald S, Matthijs G |title=Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2. |journal=Gene |volume=270 |issue= 1-2 |pages= 53-9 |year= 2001 |pmid= 11404002 |doi=  }}
}}
{{refend}}
{{refend}}
{{PDB Gallery|geneid=5373}}
== External links ==
* [https://www.ncbi.nlm.nih.gov/books/NBK1332/  GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview]
* [https://www.ncbi.nlm.nih.gov/books/NBK1110/  GeneReviews/NIH/NCBI/UW entry on PMM2-CDG (CDG-Ia)Carbohydrate-Deficient Glycoprotein Syndrome, Type 1a; Congenital Disorder of Glycosylation Type 1a; Jaeken Syndrome] 
* [https://www.ncbi.nlm.nih.gov/omim/212065,601785  OMIM entries on Carbohydrate-Deficient Glycoprotein Syndrome, Type 1a; Congenital Disorder of Glycosylation Type 1a; Jaeken Syndrome]
{{Mutases}}


{{protein-stub}}
{{gene-16-stub}}
{{WikiDoc Sources}}

Latest revision as of 18:20, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene.[1][2]

Function

Phosphomannomutase 2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. Mannose 1-phosphate is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in the gene have been shown to cause defects in the protein glycosylation pathway which manifest as congenital disorder of glycosylation type Ia.[2]

References

  1. ↑ Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E (May 1997). "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)". Nature Genetics. 16 (1): 88–92. doi:10.1038/ng0597-88. PMID 9140401.
  2. ↑ 2.0 2.1 "Entrez Gene: PMM2 phosphomannomutase 2".

Further reading

  • Matthijs G, Schollen E, Heykants L, Grünewald S (October 1999). "Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia)". Molecular Genetics and Metabolism. 68 (2): 220–6. doi:10.1006/mgme.1999.2914. PMID 10527672.
  • Jaeken J, Matthijs G (2002). "Congenital disorders of glycosylation". Annual Review of Genomics and Human Genetics. 2: 129–51. doi:10.1146/annurev.genom.2.1.129. PMID 11701646.
  • Martinsson T, Bjursell C, Stibler H, Kristiansson B, Skovby F, Jaeken J, Blennow G, Strömme P, Hanefeld F, Wahlström J (November 1994). "Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406". Human Molecular Genetics. 3 (11): 2037–42. PMID 7874123.
  • Matthijs G, Schollen E, Pirard M, Budarf ML, Van Schaftingen E, Cassiman JJ (February 1997). "PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13". Genomics. 40 (1): 41–7. doi:10.1006/geno.1996.4536. PMID 9070917.
  • Schollen E, Pardon E, Heykants L, Renard J, Doggett NA, Callen DF, Cassiman JJ, Matthijs G (February 1998). "Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene". Human Molecular Genetics. 7 (2): 157–64. doi:10.1093/hmg/7.2.157. PMID 9425221.
  • Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J (March 1998). "Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A". American Journal of Human Genetics. 62 (3): 542–50. doi:10.1086/301763. PMC 1376957. PMID 9497260.
  • Kjaergaard S, Skovby F, Schwartz M (1998). "Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1". European Journal of Human Genetics. 6 (4): 331–6. doi:10.1038/sj.ejhg.5200194. PMID 9781039.
  • Bjursell C, Wahlström J, Berg K, Stibler H, Kristiansson B, Matthijs G, Martinsson T (1999). "Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families". European Journal of Human Genetics. 6 (6): 603–11. doi:10.1038/sj.ejhg.5200234. PMID 9887379.
  • Kondo I, Mizugishi K, Yoneda Y, Hashimoto T, Kuwajima K, Yuasa I, Shigemoto K, Kuroda Y (January 1999). "Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1". Clinical Genetics. 55 (1): 50–4. doi:10.1034/j.1399-0004.1999.550109.x. PMID 10066032.
  • Vuillaumier-Barrot S, Barnier A, Cuer M, Durand G, Grandchamp B, Seta N (December 1999). "Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping". Human Mutation. 14 (6): 543–4. doi:10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S. PMID 10571956.
  • Kjaergaard S, Skovby F, Schwartz M (December 1999). "Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli". European Journal of Human Genetics. 7 (8): 884–8. doi:10.1038/sj.ejhg.5200398. PMID 10602363.
  • Imtiaz F, Worthington V, Champion M, Beesley C, Charlwood J, Clayton P, Keir G, Mian N, Winchester B (March 2000). "Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1". Journal of Inherited Metabolic Disease. 23 (2): 162–74. doi:10.1023/A:1005669900330. PMID 10801058.
  • Vuillaumier-Barrot S, Hetet G, Barnier A, Dupré T, Cuer M, de Lonlay P, Cormier-Daire V, Durand G, Grandchamp B, Seta N (August 2000). "Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients". Journal of Medical Genetics. 37 (8): 579–80. doi:10.1136/jmg.37.8.579. PMC 1734666. PMID 10922383.
  • Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B (November 2000). "Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)". Human Mutation. 16 (5): 386–94. doi:10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y. PMID 11058895.
  • Bjursell C, Erlandson A, Nordling M, Nilsson S, Wahlström J, Stibler H, Kristiansson B, Martinsson T (November 2000). "PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families". Human Mutation. 16 (5): 395–400. doi:10.1002/1098-1004(200011)16:5<395::AID-HUMU3>3.0.CO;2-T. PMID 11058896.
  • Westphal V, Enns GM, McCracken MF, Freeze HH (May 2001). "Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry". Molecular Genetics and Metabolism. 73 (1): 71–6. doi:10.1006/mgme.2001.3174. PMID 11350185.
  • Heykants L, Schollen E, Grünewald S, Matthijs G (May 2001). "Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2". Gene. 270 (1–2): 53–9. doi:10.1016/S0378-1119(01)00481-4. PMID 11404002.

External links

Retrieved from "https://www.wikidoc.org/index.php?title=PMM2&oldid=1417275"