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ALDH8A1

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
ALDH8A1
Identifiers
AliasesALDH8A1, aldehyde dehydrogenase 8 family, member A1, ALDH12, DJ352A20.2, aldehyde dehydrogenase 8 family member A1
External IDsOMIM:606467;MGI:2653900;HomoloGene:23369;GeneCards:ALDH8A1;OMA:ALDH8A1 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for ALDH8A1
Genomic location for ALDH8A1
Band6q23.3Start134,917,393bp[1]
End134,950,115bp[1]
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)[2]
Chromosome 10 (mouse)
Genomic location for ALDH8A1
Genomic location for ALDH8A1
Band10|10 A3Start21,253,190bp[2]
End21,272,484bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • kidney tubule

  • liver

  • glomerulus

  • right lobe of liver

  • metanephric glomerulus

  • renal medulla

  • human kidney

  • testicle

  • inferior olivary nucleus

  • gonad
Top expressed in
  • right kidney

  • human kidney

  • left lobe of liver

  • proximal tubule

  • sexually immature organism

  • embryo

  • ureter

  • human fetus

  • muscle of thigh

  • seminiferous tubule
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

64577

237320

Ensembl

ENSG00000118514

ENSMUSG00000037542

UniProt

Q9H2A2

Q8BH00

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: 21.25 – 21.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Aldehyde dehydrogenase 8 family, member A1 also known asALDH8A1 is anenzyme that in humans is encoded by theALDH8A1gene.[5]

Function

[edit]

This protein belongs to thealdehyde dehydrogenase family of enzymes. It was originally thought to play a role in a pathway of 9-cis-retinoic acidbiosynthesis in vivo. However, bioinformatics and experimental work has shown that it is more likely the aldehyde dehydrogenase of thekynurenine 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]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000118514Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000037542Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  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.PMC 6016481.PMID 29703752.
  7. ^"Entrez Gene: ALDH8A1".

External links

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

Family 1
Family 2 (mitochondrial)
Family 3
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