SPATC1

Chr 8

spermatogenesis and centriole associated 1

Also known as: SPATA15

NCBI Gene: 375686 ENSG00000186583 UniProt: Q76KD6 OMIM: 610874

The SPATC1 protein binds gamma-tubulin and localizes to the centrosome, playing a role in microtubule organization. Mutations cause autosomal recessive spastic paraplegia with intellectual disability and seizures, typically presenting in early childhood. The gene shows minimal constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq

Predicted to enable gamma-tubulin binding activity. Located in centrosome. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—