ADH1A

alcohol dehydrogenase 1A (class I), alpha polypeptide

Summary

This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010]

Known Variants19 total

rsidPosition (GRCh37)AllelesClassClinVar
rs38191974:100,200,509C/Tintron variant—
rs7527057654:100,200,676A/G—uncertain significance
rs283643314:100,201,295G/A—benign
rs7673002034:100,201,342A/G—uncertain significance
rs7714997704:100,201,372T/C—uncertain significance
rs25300800824:100,201,375G/T—uncertain significance
rs7771506874:100,201,382C/A—uncertain significance
rs1388830264:100,201,385C/Amissense variant—
rs9758334:100,201,739G/Cintron variant—
rs1421476194:100,203,535A/T—uncertain significance
rs15605181724:100,205,570C/G—uncertain significance
rs10186631884:100,205,603C/G—uncertain significance
rs25300877664:100,205,656T/C—uncertain significance
rs5648088614:100,205,716T/G—uncertain significance
rs1384380514:100,205,755G/T—uncertain significance
rs7816581874:100,205,900G/A—uncertain significance
rs7508690234:100,208,052C/T—uncertain significance
rs5603824184:100,208,116A/T—uncertain significance
rs1508290054:100,208,728C/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.