Aldehyde dehydrogenase 4 family, member A1
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene.[3][4]
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.[4]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ 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. PMID 8621661. doi:10.1074/jbc.271.16.9795.
- 1 2 "Entrez Gene: ALDH4A1 aldehyde dehydrogenase 4 family, member A1".
External links
- Human ALDH4A1 genome location and ALDH4A1 gene details page in the UCSC Genome Browser.
Further reading
- Valle D, Goodman SI, Harris SC, Phang JM (1980). "Genetic evidence for a common enzyme catalyzing the second step in the degradation of proline and hydroxyproline.". J. Clin. Invest. 64 (5): 1365–70. PMC 371284
. PMID 500817. doi:10.1172/JCI109593. - Hochstrasser DF, Frutiger S, Paquet N, et al. (1993). "Human liver protein map: a reference database established by microsequencing and gel comparison.". Electrophoresis. 13 (12): 992–1001. PMID 1286669. doi:10.1002/elps.11501301201.
- Goodman SI, Mace JW, Miles BS, et al. (1974). "Defective hydroxyproline metabolism in type II hyperprolinemia.". Biochemical medicine. 10 (4): 329–36. PMID 4851275. doi:10.1016/0006-2944(74)90036-2.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene. 138 (1-2): 171–4. PMID 8125298. doi:10.1016/0378-1119(94)90802-8.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene. 200 (1-2): 149–56. PMID 9373149. doi:10.1016/S0378-1119(97)00411-3.
- Geraghty MT, Vaughn D, Nicholson AJ, et al. (1998). "Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.". Hum. Mol. Genet. 7 (9): 1411–5. PMID 9700195. doi:10.1093/hmg/7.9.1411.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- Twizere JC, Kruys V, Lefèbvre L, et al. (2004). "Interaction of retroviral Tax oncoproteins with tristetraprolin and regulation of tumor necrosis factor-alpha expression.". J. Natl. Cancer Inst. 95 (24): 1846–59. PMID 14679154. doi:10.1093/jnci/djg118.
- Yoon KA, Nakamura Y, Arakawa H (2004). "Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses.". J. Hum. Genet. 49 (3): 134–40. PMID 14986171. doi:10.1007/s10038-003-0122-3.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
- Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature. 441 (7091): 315–21. PMID 16710414. doi:10.1038/nature04727.
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