Aldehyde dehydrogenase 4 family, member A1
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Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene.[5][6]
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
delta-1-pyrroline-5-carboxylate (P5C) and proline. Two transcript variants encoding the same protein have been identified for this gene.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000159423 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028737 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 8621661.
- ^ a b "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.
- PDBe-KB provides an overview of all the structure information available in the PDB for Human Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (ALDH4A1)
- PDBe-KB provides an overview of all the structure information available in the PDB for Mouse Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (ALDH4A1)
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. PMID 500817.
- 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. S2CID 23518983.
- Goodman SI, Mace JW, Miles BS, et al. (1974). "Defective hydroxyproline metabolism in type II hyperprolinemia". Biochemical Medicine. 10 (4): 329–36. PMID 4851275.
- 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.
- 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.
- 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.
- 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. PMID 12477932.
- 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.
- 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.
- 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. PMID 15489334.
- 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.