TOR4A

Chr 9

torsin family 4 member A

Also known as: C9orf167

NCBI Gene: 54863ENSG00000198113UniProt: Q9NXH8OMIM: 621477

The protein is predicted to bind and hydrolyze ATP and is predicted to be active in the endoplasmic reticulum lumen and nuclear envelope. Mutations cause autosomal recessive spastic paraplegia-76, a form of hereditary spastic paraplegia affecting the motor system. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.71).

OMIMResearchSummary from RefSeq
LOEUF 0.71
Clinical Summary— TOR4A
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.56) — some intolerance to loss-of-function variants.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.71LOEUF
pLI 0.561
Z-score 2.04
OE 0.15 (0.05–0.71)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
2.92Z-score
OE missense 0.53 (0.46–0.60)
159 obs / 301.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.15 (0.05–0.71)
0≤0.351.4
Missense OE0.53 (0.46–0.60)
0≤0.61.4
Synonymous OE0.85
0≤1.21.6
LoF obs/exp: 1 / 6.7Missense obs/exp: 159 / 301.6Syn Z: 1.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TOR4A · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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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