ALDH8A1

Aldehyde dehydrogenase 8 family, member A1
Identifiers
Symbols ALDH8A1 ; ALDH12; DJ352A20.2
External IDs OMIM: 606467 HomoloGene: 23369 GeneCards: ALDH8A1 Gene
EC number 1.2.1.-
Orthologs
Species Human Mouse
Entrez 64577 237320
Ensembl ENSG00000118514 ENSMUSG00000037542
UniProt Q9H2A2 Q8BH00
RefSeq (mRNA) NM_001193480 NM_178713.4
RefSeq (protein) NP_001180409 NP_848828.1
Location (UCSC) Chr 6:
134.92 – 134.95 Mb
Chr 10:
21.37 – 21.4 Mb
PubMed search

Aldehyde dehydrogenase 8 family, member A1 also known as ALDH8A1 is an enzyme that in humans is encoded by the ALDH8A1 gene.[1]

Function

This protein belongs to the aldehyde dehydrogenase family of proteins. It plays a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. Therefore, it is the first known aldehyde dehydrogenase to show a preference for 9-cis-retinal relative to all-trans-retinal. Two transcript variants encoding distinct isoforms have been identified for this gene.[2]

References

  1. Lin M, Napoli JL (December 2000). "cDNA cloning and expression of a human aldehyde dehydrogenase (ALDH) active with 9-cis-retinal and identification of a rat ortholog, ALDH12". The Journal of Biological Chemistry 275 (51): 40106–12. doi:10.1074/jbc.M008027200. PMID 11007799.
  2. "Entrez Gene: ALDH8A1".


This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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