Difference between revisions of "Aldehyde dehydrogenase 4 family, member A1"

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*{{cite journal  | vauthors=Valle D, Goodman SI, Harris SC, Phang JM |title=Genetic evidence for a common enzyme catalyzing the second step in the degradation of proline and hydroxyproline. |journal=J. Clin. Invest. |volume=64 |issue= 5 |pages= 1365–70 |year= 1980 |pmid= 500817  | pmc=371284 |doi=10.1172/JCI109593  }}
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*{{cite journal  | vauthors=Valle D, Goodman SI, Harris SC, Phang JM |title=Genetic evidence for a common enzyme catalyzing the second step in the degradation of proline and hydroxyproline |journal=J. Clin. Invest. |volume=64 |issue= 5 |pages= 1365–70 |year= 1980 |pmid= 500817  | pmc=371284 |doi=10.1172/JCI109593  }}
*{{cite journal  | vauthors=Hochstrasser DF, Frutiger S, Paquet N |title=Human liver protein map: a reference database established by microsequencing and gel comparison. |journal=Electrophoresis |volume=13 |issue= 12 |pages= 992–1001 |year= 1993 |pmid= 1286669 |doi=10.1002/elps.11501301201  |display-authors=etal}}
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*{{cite journal  | vauthors=Hochstrasser DF, Frutiger S, Paquet N |title=Human liver protein map: a reference database established by microsequencing and gel comparison |journal=Electrophoresis |volume=13 |issue= 12 |pages= 992–1001 |year= 1993 |pmid= 1286669 |doi=10.1002/elps.11501301201  |display-authors=etal}}
*{{cite journal  | vauthors=Goodman SI, Mace JW, Miles BS |title=Defective hydroxyproline metabolism in type II hyperprolinemia. |journal=Biochemical medicine |volume=10 |issue= 4 |pages= 329–36 |year= 1974 |pmid= 4851275 |doi=10.1016/0006-2944(74)90036-2  |display-authors=etal}}
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*{{cite journal  | vauthors=Goodman SI, Mace JW, Miles BS |title=Defective hydroxyproline metabolism in type II hyperprolinemia |journal=Biochemical Medicine |volume=10 |issue= 4 |pages= 329–36 |year= 1974 |pmid= 4851275 |doi=10.1016/0006-2944(74)90036-2  |display-authors=etal}}
*{{cite journal  | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8  }}
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*{{cite journal  | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8  }}
*{{cite journal  | vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3  |display-authors=etal}}
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*{{cite journal  | vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3  |display-authors=etal}}
*{{cite journal  | vauthors=Geraghty MT, Vaughn D, Nicholson AJ |title=Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. |journal=Hum. Mol. Genet. |volume=7 |issue= 9 |pages= 1411–5 |year= 1998 |pmid= 9700195 |doi=10.1093/hmg/7.9.1411  |display-authors=etal}}
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*{{cite journal  | vauthors=Geraghty MT, Vaughn D, Nicholson AJ |title=Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia |journal=Hum. Mol. Genet. |volume=7 |issue= 9 |pages= 1411–5 |year= 1998 |pmid= 9700195 |doi=10.1093/hmg/7.9.1411  |display-authors=etal}}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |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  | pmc=139241 |doi= 10.1073/pnas.242603899 |display-authors=etal}}
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*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |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  | pmc=139241 |doi= 10.1073/pnas.242603899 |display-authors=etal}}
*{{cite journal  | vauthors=Twizere JC, Kruys V, Lefèbvre L |title=Interaction of retroviral Tax oncoproteins with tristetraprolin and regulation of tumor necrosis factor-alpha expression. |journal=J. Natl. Cancer Inst. |volume=95 |issue= 24 |pages= 1846–59 |year= 2004 |pmid= 14679154 |doi=  10.1093/jnci/djg118|display-authors=etal}}
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*{{cite journal  | vauthors=Twizere JC, Kruys V, Lefèbvre L |title=Interaction of retroviral Tax oncoproteins with tristetraprolin and regulation of tumor necrosis factor-alpha expression |journal=J. Natl. Cancer Inst. |volume=95 |issue= 24 |pages= 1846–59 |year= 2004 |pmid= 14679154 |doi=  10.1093/jnci/djg118|display-authors=etal|citeseerx=10.1.1.556.6156 }}
*{{cite journal  | vauthors=Yoon KA, Nakamura Y, Arakawa H |title=Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses. |journal=J. Hum. Genet. |volume=49 |issue= 3 |pages= 134–40 |year= 2004 |pmid= 14986171 |doi= 10.1007/s10038-003-0122-3 }}
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*{{cite journal  | vauthors=Yoon KA, Nakamura Y, Arakawa H |title=Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses |journal=J. Hum. Genet. |volume=49 |issue= 3 |pages= 134–40 |year= 2004 |pmid= 14986171 |doi= 10.1007/s10038-003-0122-3 }}
*{{cite journal  | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334  | pmc=528928 |doi= 10.1101/gr.2596504 |display-authors=etal}}
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*{{cite journal  | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334  | pmc=528928 |doi= 10.1101/gr.2596504 |display-authors=etal}}
*{{cite journal  | vauthors=Gregory SG, Barlow KF, McLay KE |title=The DNA sequence and biological annotation of human chromosome 1. |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 |display-authors=etal}}
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*{{cite journal  | vauthors=Gregory SG, Barlow KF, McLay KE |title=The DNA sequence and biological annotation of human chromosome 1 |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 |display-authors=etal}}
 
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Latest revision as of 03:17, 7 September 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene.[1][2]

This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase that catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Two transcript variants encoding the same protein have been identified for this gene.[2]

References

  1. Hu CA, Lin WW, Valle D (Jun 1996). "Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase". J Biol Chem. 271 (16): 9795–800. doi:10.1074/jbc.271.16.9795. PMID 8621661.
  2. 2.0 2.1 "Entrez Gene: ALDH4A1 aldehyde dehydrogenase 4 family, member A1".

External links

Further reading



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