ALDH9A1

Chr 1

aldehyde dehydrogenase 9 family member A1

Also known as: ALDH4, ALDH7, ALDH9, E3, TMABA-DH, TMABADH, TMABALDH

This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
22
Pubs (1 yr)
P/LP submissions
P/LP missense
1.14
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.14LOEUF
pLI 0.000
Z-score 1.01
OE 0.78 (0.551.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.42Z-score
OE missense 1.07 (0.971.17)
312 obs / 292.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.78 (0.551.14)
00.351.4
Missense OE?1.07 (0.971.17)
00.61.4
Synonymous OE?1.10
01.21.6
LoF obs/exp: 20 / 25.5Missense obs/exp: 312 / 292.0Syn Z: -0.86

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ALDH9A1 · 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.

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