ALDH1A1

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aldehyde dehydrogenase 1 family
250px
PDB rendering based on 1bxs.
Identifiers
SymbolsALDH1A1; ALDH11; ALDH1; MGC2318; ALDC; PUMB1; RALDH1
External IDsOMIM100640 MGI1353450 HomoloGene110441 GeneCards: ALDH1A1 Gene
EC number1.2.1.36
Orthologs
SpeciesHumanMouse
Entrez21611668
EnsemblENSG00000165092ENSMUSG00000053279
UniProtP00352P24549
RefSeq (mRNA)NM_000689NM_013467
RefSeq (protein)NP_000680NP_038495
Location (UCSC)Chr 9:
74.71 - 74.76 Mb
Chr 19:
20.68 - 20.72 Mb
PubMed search[1][2]

Aldehyde dehydrogenase 1 family, member A1 also known as ALDH1A1 is an enzyme which in humans is encoded by the ALDH1A1 gene.[1][2]

Function

This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of this enzyme, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of the mitochondrial isozyme. This gene encodes the main cytosolic isoform, which has a lower affinity for aldehydes than the mitochondrial enzyme.[3]

ALDH1A1 also belongs to the group of corneal crystallins that help maintain the transparency of the cornea.[4]

References

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Further reading

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

ru:ALDH1A1
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