ALDH1A1

Chr 9

aldehyde dehydrogenase 1 family member A1

Also known as: ALDC, ALDH-E1, ALDH1, ALDH11, HEL-9, HEL-S-53e, HEL12, PUMB1

NCBI Gene: 216ENSG00000165092UniProt: P00352OMIM: 100640

The cytosolic aldehyde dehydrogenase enzyme catalyzes the oxidation of aldehydes to carboxylic acids, including the conversion of retinaldehyde to retinoic acid in vitamin A metabolism and detoxification of cytotoxic aldehydes from lipid peroxidation. Mutations cause microphthalmia with coloboma 8, an autosomal recessive disorder affecting ocular development. The gene is highly constrained against loss-of-function variants, indicating that complete loss of function is likely incompatible with normal development.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.34
Clinical Summary— ALDH1A1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.95). One damaged copy is likely sufficient to cause disease.
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ClinVar Variants
38 unique Pathogenic / Likely Pathogenic· 39 VUS of 97 total submissions
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Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.34LOEUF
pLI 0.954
Z-score 4.13
OE 0.15 (0.07–0.34)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.66Z-score
OE missense 0.72 (0.64–0.81)
199 obs / 276.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.15 (0.07–0.34)
0≤0.351.4
Missense OE0.72 (0.64–0.81)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 4 / 27.3Missense obs/exp: 199 / 276.4Syn Z: -0.34

ClinVar Variant Classifications

97 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic33
Likely Pathogenic5
VUS39
Likely Benign3
Benign3
33
Pathogenic
5
Likely Pathogenic
39
VUS
3
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
33
0
33
Likely Pathogenic
0
0
5
0
5
VUS
0
34
5
0
39
Likely Benign
0
1
0
2
3
Benign
0
1
2
0
3
Total03645283

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ALDH1A1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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