ALDH3B1

Chr 11

aldehyde dehydrogenase 3 family member B1

Also known as: ALDH4, ALDH7

NCBI Gene: 221 ENSG00000006534 UniProt: P43353

The protein functions as an aldehyde dehydrogenase that oxidizes medium and long-chain fatty aldehydes generated in plasma membranes into non-toxic fatty acids, providing protection against lipid peroxidation-induced cytotoxicity. This gene is extremely tolerant of loss-of-function variation in the general population, and no well-established human disease has been definitively associated with ALDH3B1 mutations. While the protein appears to have a role in cellular protection from oxidative stress, pathogenic variants causing clinical phenotypes have not been clearly documented.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.99

LOEUF

Multiple*

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?

0.99LOEUF

pLI 0.000

Z-score 1.58

OE 0.60 (0.38–0.99)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.96Z-score

OE missense 0.85 (0.76–0.94)

259 obs / 306.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.60 (0.38–0.99)

0≤0.351.4

Missense OE?0.85 (0.76–0.94)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 11 / 18.3Missense obs/exp: 259 / 306.2Syn Z: -0.11

Background carrier burden — how many people carry a rare variant somewhere in ALDH3B1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 46

647 rare PASS variants

Rare truncating (LoF)

1 in 1,600

88 rare PASS variants

Rare synonymous (reference)

1 in 93

311 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ALDH3B1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 53	1 in 2,000
South Asian	~43k	1 in 57	1 in 900
Remaining (unassigned)	~30k	1 in 45	1 in 1,400
European (Finnish)	~27k	1 in 230	1 in 2,400
Admixed American	~22k	1 in 62	1 in 670
African / African American	~21k	1 in 70	1 in 1,900
East Asian	~20k	1 in 50	1 in 2,600
Ashkenazi Jewish	~13k	1 in 340	none seen
Middle Eastern	~2,884	1 in 70	1 in 540

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 9 coding exons well covered in gnomAD exomes and genomes.? see exons ↓