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ALDH8A1
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
Gene location (Human)
Chr.	Chromosome 6 (human)
End	134,950,115 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	21,272,484 bp
RNA expression pattern
	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
	n/a
Gene ontology
Molecular function	oxidoreductase activity; retinal dehydrogenase activity; oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor; aminomuconate-semialdehyde dehydrogenase activity;
Cellular component	cytoplasm; cytosol; extracellular exosome; intracellular anatomical structure;
Biological process	metabolism; 9-cis-retinoic acid biosynthetic process; retinoic acid metabolic process; retinal metabolic process; L-kynurenine catabolic process;
	Sources:Amigo / QuickGO
Orthologs
	64577
	237320
	ENSG00000118514
	ENSMUSG00000037542
	Q9H2A2
	Q8BH00
	NM_001193480; NM_022568; NM_170771
	NM_178713
	NP_001180409; NP_072090; NP_739577
	NP_848828
	Wikidata
View/Edit Human	View/Edit Mouse

Aldehyde dehydrogenase 8 family, member A1 also known as ALDH8A1 is an enzyme that in humans is encoded by the ALDH8A1 gene.^[5]

Function

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

^ ^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

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.

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000118514 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000037542 – Ensembl, 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.

[pmid11007799-5] 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.

[entrez-7] "Entrez Gene: ALDH8A1".

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