- ALDH4A1
Aldehyde dehydrogenase 4 family, member A1, also known as ALDH4A1, is a human
gene .cite web | title = Entrez Gene: ALDH4A1 aldehyde dehydrogenase 4 family, member A1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8659| accessdate = ]PBB_Summary
section_title =
summary_text = This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type IIhyperprolinemia , an autosomal recessive disorder characterized by accumulation ofdelta-1-pyrroline-5-carboxylate (P5C) and proline. Two transcript variants encoding the same protein have been identified for this gene.cite web | title = Entrez Gene: ALDH4A1 aldehyde dehydrogenase 4 family, member A1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8659| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=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 |doi=
*cite journal | author=Hochstrasser DF, Frutiger S, Paquet N, "et al." |title=Human liver proteinjournal=Electrophoresis |volume=13 |issue= 12 |pages= 992–1001 |year= 1993 |pmid= 1286669 |doi=
*cite journal | author=Goodman SI, Mace JW, Miles BS, "et al." |title=Defective hydroxyproline metabolism in type II hyperprolinemia. |journal=Biochemical medicine |volume=10 |issue= 4 |pages= 329–36 |year= 1974 |pmid= 4851275 |doi=
*cite journal | author=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=
*cite journal | author=Hu CA, Lin WW, Valle D |title=Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase. |journal=J. Biol. Chem. |volume=271 |issue= 16 |pages= 9795–800 |year= 1996 |pmid= 8621661 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |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=
*cite journal | author=Geraghty MT, Vaughn D, Nicholson AJ, "et al." |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=
*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 | author=Twizere JC, Kruys V, Lefèbvre L, "et al." |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=
*cite journal | author=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 | author=Gerhard DS, Wagner L, Feingold EA, "et al." |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 |doi= 10.1101/gr.2596504
*cite journal | author=Gregory SG, Barlow KF, McLay KE, "et al." |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/nature04727PBB_Controls
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