ADH6

Chr 4

alcohol dehydrogenase 6 (class V)

Also known as: ADH-5

This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This gene is expressed in the stomach as well as in the liver, and it contains a glucocorticoid response element upstream of its 5' UTR, which is a steroid hormone receptor binding site. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
P/LP submissions
P/LP missense
1.17
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.17LOEUF
pLI 0.000
Z-score 1.06
OE 0.71 (0.451.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.60Z-score
OE missense 0.88 (0.781.00)
174 obs / 197.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.71 (0.451.17)
00.351.4
Missense OE?0.88 (0.781.00)
00.61.4
Synonymous OE?0.98
01.21.6
LoF obs/exp: 11 / 15.5Missense obs/exp: 174 / 197.5Syn Z: 0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ADH6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →