PANK2 (gene): Difference between revisions

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'''Pantothenate kinase 2, mitochondrial''' is an [[enzyme]] that in humans is encoded by the ''PANK2'' [[gene]].<ref name="pmid8944032">{{cite journal | vauthors = Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, Davis S, Pineda M, Hattori H, Flett PJ, Cilio MR, Bertini E, Hayflick SJ | title = Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13 | journal = Nat Genet | volume = 14 | issue = 4 | pages = 479–81 |date=Jan 1997 | pmid = 8944032 | pmc =  | doi = 10.1038/ng1296-479 }}</ref><ref name="pmid11479594">{{cite journal | vauthors = Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ | title = A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome | journal = Nat Genet | volume = 28 | issue = 4 | pages = 345–9 |date=Jul 2001 | pmid = 11479594 | pmc =  | doi = 10.1038/ng572 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PANK2 pantothenate kinase 2 (Hallervorden-Spatz syndrome)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80025| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Pantothenate kinase 2 (Hallervorden-Spatz syndrome)
| HGNCid = 15894
| Symbol = PANK2
| AltSymbols =; HSS; HARP; C20orf48; MGC15053; NBIA1; PKAN
| OMIM = 606157
| ECnumber =
| Homologene = 65126
| MGIid = 1921700
  | GeneAtlas_image1 = PBB_GE_PANK2_218809_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004594 |text = pantothenate kinase activity}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016740 |text = transferase activity}}
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}}
  | Process = {{GNF_GO|id=GO:0015937 |text = coenzyme A biosynthetic process}}  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 80025
    | Hs_Ensembl = ENSG00000125779
    | Hs_RefseqProtein = NP_079236
    | Hs_RefseqmRNA = NM_024960
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 20
    | Hs_GenLoc_start = 3817486
    | Hs_GenLoc_end = 3852502
    | Hs_Uniprot = Q9BZ23
    | Mm_EntrezGene = 74450
    | Mm_Ensembl = ENSMUSG00000037514
    | Mm_RefseqmRNA = NM_153501
    | Mm_RefseqProtein = NP_705721
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 130953941
    | Mm_GenLoc_end = 130990629
    | Mm_Uniprot = 
  }}
}}
'''Pantothenate kinase 2 (Hallervorden-Spatz syndrome)''', also known as '''PANK2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PANK2 pantothenate kinase 2 (Hallervorden-Spatz syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80025| accessdate = }}</ref>


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| section_title =  
| section_title =
| summary_text = This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms.<ref name="entrez">{{cite web | title = Entrez Gene: PANK2 pantothenate kinase 2 (Hallervorden-Spatz syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80025| accessdate = }}</ref>
| summary_text = This gene encodes a protein belonging to the [[pantothenate kinase]] family and is the only member of that family to be expressed in [[mitochondria]]. Pantothenate kinase is a key [[regulatory enzyme]] in the [[biosynthesis]] of [[coenzyme A]] (CoA) in [[bacteria]] and mammalian cells. It catalyzes the first [[committed step]] in the universal [[biosynthetic pathway]] leading to CoA and is itself subject to regulation through feedback inhibition by [[acyl CoA]] species. Mutations in this gene are associated with HARP syndrome and [[Pantothenate kinase-associated neurodegeneration]] (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first [[exon]]s, results in multiple transcripts encoding different [[isoform]]s.<ref name="entrez"/>
}}
}}


==References==
==References==
{{reflist|2}}
{{Reflist}}
 
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pkan  GeneReviews/NCBI/NIH/UW entry on Pantothenate Kinase-Associated Neurodegeneration]
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{Refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| citations =
*{{cite journal  | author=Robishaw JD, Neely JR |title=Coenzyme A metabolism. |journal=Am. J. Physiol. |volume=248 |issue= 1 Pt 1 |pages= E1-9 |year= 1985 |pmid= 2981478 |doi=  }}
*{{Cite journal  | vauthors=Robishaw JD, Neely JR |title=Coenzyme A metabolism. |journal=Am. J. Physiol. |volume=248 |issue= 1 Pt 1 |pages= E1–9 |year= 1985 |pmid= 2981478 |doi=  }}
*{{cite journal  | author=Hayflick SJ |title=Neurodegeneration with brain iron accumulation: from genes to pathogenesis. |journal=Seminars in pediatric neurology |volume=13 |issue= 3 |pages= 182-5 |year= 2007 |pmid= 17101457 |doi= 10.1016/j.spen.2006.08.007 }}
*{{Cite journal  | author=Hayflick SJ |title=Neurodegeneration with brain iron accumulation: from genes to pathogenesis. |journal=Seminars in pediatric neurology |volume=13 |issue= 3 |pages= 182–5 |year= 2007 |pmid= 17101457 |doi= 10.1016/j.spen.2006.08.007 }}
*{{cite journal | author=Taylor TD, Litt M, Kramer P, ''et al.'' |title=Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. |journal=Nat. Genet. |volume=14 |issue= 4 |pages= 479-81 |year= 1997 |pmid= 8944032 |doi= 10.1038/ng1296-479 }}
*{{Cite journal   |vauthors=Deloukas P, Matthews LH, Ashurst J, etal |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
*{{cite journal  | author=Zhou B, Westaway SK, Levinson B, ''et al.'' |title=A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. |journal=Nat. Genet. |volume=28 |issue= 4 |pages= 345-9 |year= 2001 |pmid= 11479594 |doi= 10.1038/ng572 }}
*{{Cite journal   |vauthors=Ching KH, Westaway SK, Gitschier J, etal |title=HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. |journal=Neurology |volume=58 |issue= 11 |pages= 1673–4 |year= 2002 |pmid= 12058097 |doi=  10.1212/wnl.58.11.1673}}
*{{cite journal  | author=Deloukas P, Matthews LH, Ashurst J, ''et al.'' |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865-71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
*{{Cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=Ching KH, Westaway SK, Gitschier J, ''et al.'' |title=HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. |journal=Neurology |volume=58 |issue= 11 |pages= 1673-4 |year= 2002 |pmid= 12058097 |doi=  }}
*{{Cite journal  | vauthors=Hörtnagel K, Prokisch H, Meitinger T |title=An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. |journal=Hum. Mol. Genet. |volume=12 |issue= 3 |pages= 321–7 |year= 2003 |pmid= 12554685 |doi=10.1093/hmg/ddg026 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{Cite journal  | vauthors=Molinuevo JL, Martí MJ, Blesa R, Tolosa E |title=Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome. |journal=Mov. Disord. |volume=18 |issue= 11 |pages= 1351–3 |year= 2004 |pmid= 14639680 |doi= 10.1002/mds.10520 }}
*{{cite journal  | author=Hörtnagel K, Prokisch H, Meitinger T |title=An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. |journal=Hum. Mol. Genet. |volume=12 |issue= 3 |pages= 321-7 |year= 2003 |pmid= 12554685 |doi=  }}
*{{Cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Molinuevo JL, Martí MJ, Blesa R, Tolosa E |title=Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome. |journal=Mov. Disord. |volume=18 |issue= 11 |pages= 1351-3 |year= 2004 |pmid= 14639680 |doi= 10.1002/mds.10520 }}
*{{Cite journal  | vauthors=Thomas M, Hayflick SJ, Jankovic J |title=Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. |journal=Mov. Disord. |volume=19 |issue= 1 |pages= 36–42 |year= 2004 |pmid= 14743358 |doi= 10.1002/mds.10650 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{Cite journal   |vauthors=Johnson MA, Kuo YM, Westaway SK, etal |title=Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration. |journal=Ann. N. Y. Acad. Sci. |volume=1012 |issue=  |pages= 282–98 |year= 2004 |pmid= 15105273 |doi=10.1196/annals.1306.023 }}
*{{cite journal  | author=Thomas M, Hayflick SJ, Jankovic J |title=Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. |journal=Mov. Disord. |volume=19 |issue= 1 |pages= 36-42 |year= 2004 |pmid= 14743358 |doi= 10.1002/mds.10650 }}
*{{Cite journal   |vauthors=Marelli C, Piacentini S, Garavaglia B, etal |title=Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration. |journal=Mov. Disord. |volume=20 |issue= 2 |pages= 208–12 |year= 2005 |pmid= 15390030 |doi= 10.1002/mds.20282 }}
*{{cite journal | author=Johnson MA, Kuo YM, Westaway SK, ''et al.'' |title=Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration. |journal=Ann. N. Y. Acad. Sci. |volume=1012 |issue=  |pages= 282-98 |year= 2004 |pmid= 15105273 |doi=  }}
*{{Cite journal   |vauthors=Yamashita S, Maeda Y, Ohmori H, etal |title=Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene. |journal=J. Neurol. Sci. |volume=225 |issue= 1–2 |pages= 129–33 |year= 2005 |pmid= 15465096 |doi= 10.1016/j.jns.2004.07.012 }}
*{{cite journal | author=Marelli C, Piacentini S, Garavaglia B, ''et al.'' |title=Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration. |journal=Mov. Disord. |volume=20 |issue= 2 |pages= 208-12 |year= 2005 |pmid= 15390030 |doi= 10.1002/mds.20282 }}
*{{Cite journal  | vauthors=Kotzbauer PT, Truax AC, Trojanowski JQ, Lee VM |title=Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2 |journal=J. Neurosci. |volume=25 |issue= 3 |pages= 689–98 |year= 2005 |pmid= 15659606 |doi= 10.1523/JNEUROSCI.4265-04.2005 }}
*{{cite journal | author=Yamashita S, Maeda Y, Ohmori H, ''et al.'' |title=Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene. |journal=J. Neurol. Sci. |volume=225 |issue= 1-2 |pages= 129-33 |year= 2005 |pmid= 15465096 |doi= 10.1016/j.jns.2004.07.012 }}
*{{Cite journal   |vauthors=Zhang YH, Tang BS, Zhao AL, etal |title=Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration |journal=Mov. Disord. |volume=20 |issue= 7 |pages= 819–21 |year= 2005 |pmid= 15747360 |doi= 10.1002/mds.20408 | pmc=2105744 }}
*{{cite journal  | author=Kotzbauer PT, Truax AC, Trojanowski JQ, Lee VM |title=Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2. |journal=J. Neurosci. |volume=25 |issue= 3 |pages= 689-98 |year= 2005 |pmid= 15659606 |doi= 10.1523/JNEUROSCI.4265-04.2005 }}
*{{Cite journal   |vauthors=Klopstock T, Elstner M, Lücking CB, etal |title=Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease |journal=Neurosci. Lett. |volume=379 |issue= 3 |pages= 195–8 |year= 2005 |pmid= 15843062 |doi= 10.1016/j.neulet.2004.12.061 }}
*{{cite journal | author=Zhang YH, Tang BS, Zhao AL, ''et al.'' |title=Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration. |journal=Mov. Disord. |volume=20 |issue= 7 |pages= 819-21 |year= 2005 |pmid= 15747360 |doi= 10.1002/mds.20408 }}
*{{Cite journal   |vauthors=Pellecchia MT, Valente EM, Cif L, etal |title=The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration |journal=Neurology |volume=64 |issue= 10 |pages= 1810–2 |year= 2006 |pmid= 15911822 |doi= 10.1212/01.WNL.0000161843.52641.EC }}
*{{cite journal | author=Klopstock T, Elstner M, Lücking CB, ''et al.'' |title=Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease. |journal=Neurosci. Lett. |volume=379 |issue= 3 |pages= 195-8 |year= 2005 |pmid= 15843062 |doi= 10.1016/j.neulet.2004.12.061 }}
*{{Cite journal   |vauthors=Rump P, Lemmink HH, Verschuuren-Bemelmans CC, etal |title=A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect |journal=Neurogenetics |volume=6 |issue= 4 |pages= 201–7 |year= 2006 |pmid= 16240131 |doi= 10.1007/s10048-005-0018-9 | pmc=2105745 }}
*{{cite journal | author=Pellecchia MT, Valente EM, Cif L, ''et al.'' |title=The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration. |journal=Neurology |volume=64 |issue= 10 |pages= 1810-2 |year= 2006 |pmid= 15911822 |doi= 10.1212/01.WNL.0000161843.52641.EC }}
*{{cite journal | author=Rump P, Lemmink HH, Verschuuren-Bemelmans CC, ''et al.'' |title=A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect. |journal=Neurogenetics |volume=6 |issue= 4 |pages= 201-7 |year= 2006 |pmid= 16240131 |doi= 10.1007/s10048-005-0018-9 }}
}}
}}
{{refend}}
{{Refend}}
 
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Revision as of 17:31, 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

Pantothenate kinase 2, mitochondrial is an enzyme that in humans is encoded by the PANK2 gene.[1][2][3]

This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and Pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms.[3]

References

  1. ↑ Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, Davis S, Pineda M, Hattori H, Flett PJ, Cilio MR, Bertini E, Hayflick SJ (Jan 1997). "Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13". Nat Genet. 14 (4): 479–81. doi:10.1038/ng1296-479. PMID 8944032.
  2. ↑ Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ (Jul 2001). "A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome". Nat Genet. 28 (4): 345–9. doi:10.1038/ng572. PMID 11479594.
  3. ↑ 3.0 3.1 "Entrez Gene: PANK2 pantothenate kinase 2 (Hallervorden-Spatz syndrome)".

External links

Further reading



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