ALDH4A1

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Aldehyde dehydrogenase 4 family, member A1
Identifiers
Symbols ALDH4A1 ; ALDH4; P5CD; P5CDh; P5CDhL; P5CDhS
External IDs Template:OMIM5 Template:MGI HomoloGene6081
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Aldehyde dehydrogenase 4 family, member A1, also known as ALDH4A1, is a human gene.[1]

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 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.[1]

References

  1. 1.0 1.1 "Entrez Gene: ALDH4A1 aldehyde dehydrogenase 4 family, member A1".

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. PMID 1286669.
  • 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.
  • Hu CA, Lin WW, Valle D (1996). "Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase". J. Biol. Chem. 271 (16): 9795–800. PMID 8621661.
  • 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. doi:10.1073/pnas.242603899. 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. 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. 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. doi:10.1038/nature04727. PMID 16710414.

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