ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide
Gene ID: 125, updated on 5-Mar-2024Gene type: protein coding
Also known as: ADH2; HEL-S-117
- See all available tests in GTR for this gene
- Go to complete Gene record for ADH1B
- Go to Variation Viewer for ADH1B variants
Summary
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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. GeneReviews: Not available | |
A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. GeneReviews: Not available | |
Alcohol dependence | See labs |
Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication. GeneReviews: Not available | |
Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. GeneReviews: Not available | |
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. GeneReviews: Not available | |
Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster. GeneReviews: Not available |
Genomic context
- Location:
- 4q23
- Sequence:
- Chromosome: 4; NC_000004.12 (99304971..99321401, complement)
- Total number of exons:
- 10
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for ADH1B variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ADH1B database
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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