ATAD1

Chr 10

ATPase family AAA domain containing 1

Also known as: AFDC1, FNP001, HKPX4, Msp1, THORASE, hATAD1

NCBI Gene: 84896ENSG00000138138UniProt: Q8NBU5

Predicted to enable ATP hydrolysis activity. Involved in extraction of mislocalized protein from mitochondrial outer membrane. Located in mitochondrial outer membrane and peroxisomal membrane. Implicated in hyperekplexia 4. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.75
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?
0.75LOEUF
pLI 0.001
Z-score 2.36
OE 0.42 (0.24–0.75)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.10Z-score
OE missense 0.58 (0.50–0.68)
116 obs / 199.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.42 (0.24–0.75)
0≤0.351.4
Missense OE?0.58 (0.50–0.68)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 8 / 19.2Missense obs/exp: 116 / 199.5Syn Z: 0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ATAD1 · 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