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DeutschALDH8A1
| ALDH8A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | ALDH8A1, aldehyde dehydrogenase 8 family, member A1, ALDH12, DJ352A20.2, aldehyde dehydrogenase 8 family member A1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606467; MGI: 2653900; HomoloGene: 23369; GeneCards: ALDH8A1; OMA:ALDH8A1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Aldehyde dehydrogenase 8 family, member A1 also known as ALDH8A1 is an enzyme that in humans is encoded by the ALDH8A1 gene.[5]
Function
[edit]This protein belongs to the aldehyde dehydrogenase family of enzymes. It was originally thought to play a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. However, bioinformatics and experimental work has shown that it is more likely the aldehyde dehydrogenase of the kynurenine pathway, oxidizing 2-aminomuconate semialdehyde to 2-aminomuconic acid.[6] Two transcript variants encoding distinct isoforms have been identified for this gene.[7]
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000118514 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037542 – 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.
- ^ 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.
- ^ Davis I, Yang Y, Wherritt D, Liu A (June 2018). "Reassignment of the human aldehyde dehydrogenase ALDH8A1 (ALDH12) to the kynurenine pathway in tryptophan catabolism". The Journal of Biological Chemistry. 293 (25): 9594–9603. doi:10.1074/jbc.RA118.003320. PMC 6016481. PMID 29703752.
- ^ "Entrez Gene: ALDH8A1".
External links
[edit]- Human ALDH8A1 genome location and ALDH8A1 gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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