| ALDH4A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | ALDH4A1, ALDH4, P5CD, P5CDh, Aldehyde dehydrogenase 4 family, member A1, aldehyde dehydrogenase 4 family member A1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606811 MGI: 2443883 HomoloGene: 6081 GeneCards: ALDH4A1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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 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.[6]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000159423 - Ensembl, May 2017
- 1 2 3 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.
- ↑ 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.
- 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.
- 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. doi:10.1172/JCI109593. PMC 371284. 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. doi:10.1002/elps.11501301201. PMID 1286669. S2CID 23518983.
- Goodman SI, Mace JW, Miles BS, et al. (1974). "Defective hydroxyproline metabolism in type II hyperprolinemia". Biochemical Medicine. 10 (4): 329–36. doi:10.1016/0006-2944(74)90036-2. 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. doi:10.1016/0378-1119(94)90802-8. 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. doi:10.1016/S0378-1119(97)00411-3. 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. doi:10.1093/hmg/7.9.1411. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. 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. CiteSeerX 10.1.1.556.6156. doi:10.1093/jnci/djg118. 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. doi:10.1007/s10038-003-0122-3. 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. doi:10.1101/gr.2596504. PMC 528928. 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. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
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