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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]

ALDH8A1
Identifiers
AliasesALDH8A1, aldehyde dehydrogenase 8 family, member A1, ALDH12, DJ352A20.2, aldehyde dehydrogenase 8 family member A1
External IDsMGI: 2653900 HomoloGene: 23369 GeneCards: ALDH8A1
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for ALDH8A1
Genomic location for ALDH8A1
Band6q23.3Start134,917,393 bp[1]
End134,950,115 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001193480
NM_022568
NM_170771

NM_178713

RefSeq (protein)

NP_001180409
NP_072090
NP_739577

NP_848828

Location (UCSC)Chr 6: 134.92 – 134.95 MbChr 10: 21.38 – 21.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

FunctionEdit

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]

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000118514 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037542 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  6. ^ 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. PMID 29703752.
  7. ^ "Entrez Gene: ALDH8A1".

External linksEdit

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