Neha Patil

ADH1B

Updated on
Share on FacebookTweet on TwitterShare on LinkedIn
Species  Human
Entrez  125
Human  Mouse
Ensembl  ENSG00000196616
ADH1B
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.

References

ADH1B Wikipedia


Similar Topics
The Abduction Club
Jag är din krigare
Nathan Massey (rugby league born 1989)
Topics