AASDH

Chr 4

aminoadipate-semialdehyde dehydrogenase

Also known as: ACSF4, LYS2, NRPS1098, NRPS998

NCBI Gene: 132949ENSG00000157426UniProt: Q4L235OMIM: 614365

This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.83
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.000
Z-score 2.50
OE 0.60 (0.45–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.26Z-score
OE missense 0.97 (0.90–1.04)
534 obs / 550.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.60 (0.45–0.83)
0≤0.351.4
Missense OE?0.97 (0.90–1.04)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 28 / 46.4Missense obs/exp: 534 / 550.8Syn Z: 0.91

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AASDH · 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