ALDH1B1

Chr 9

aldehyde dehydrogenase 1 family member B1

Also known as: ALDH5, ALDHX

NCBI Gene: 219ENSG00000137124UniProt: P30837

This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
25
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.30
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.30LOEUF
pLI 0.000
Z-score 0.78
OE 0.77 (0.47–1.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.23Z-score
OE missense 1.04 (0.95–1.13)
333 obs / 321.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.77 (0.47–1.30)
0≤0.351.4
Missense OE?1.04 (0.95–1.13)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 10 / 13.0Missense obs/exp: 333 / 321.5Syn Z: 0.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ALDH1B1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients