TOR4A

Chr 9

torsin family 4 member A

Also known as: C9orf167

NCBI Gene: 54863 ENSG00000198113 UniProt: Q9NXH8

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).

ResearchSummary from RefSeq

Predicted to enable ATP binding activity and ATP hydrolysis activity. Predicted to be located in extracellular region and platelet alpha granule lumen. Predicted to be active in endoplasmic reticulum lumen and nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.71

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429