Entrez 125 | Ensembl ENSG00000196616 | |
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Aliases ADH1B, ADH2, HEL-S-117, alcohol dehydrogenase 1B (class I), beta polypeptide External IDs HomoloGene: 133563 GeneCards: ADH1B | ||
Alcohol dehydrogenase 1B is an enzyme that in humans is encoded by the ADH1B gene.
Contents
The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster.
The human gene is located on chromosome 4 in 4q22.
Previously ADH1B was called ADH2. There are more genes in the family of alcohol and aldehyde dehydrogenase genes. These genes are now referred to as ADH1A, ADH1C, and ADH4, ADH5, ADH6 and ADH7.
Variants
A single nucleotide polymorphism (SNP) in ADH1B is rs1229984, that changes arginine to histidine at residue 47. The 'typical' variant of this has been referred to as ADH2(1) or ADH2*1 while the 'atypical' has been referred to as, e.g., ADH2(2), ADH2*2, ADH1B*47his, or ADH1B arg47-to-his. This SNP may be related to alcohol consumption with the atypical genotype having reduced risk of alcoholism.
Another SNP is Arg369Cys.
Role in pathology
A marked decrease of ADH1B mRNA was detected in corneal fibroblasts taken from persons suffering from keratoconus.