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
- ↑ 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.
- ↑ "Entrez Gene: ALDH8A1".
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
|