RAB3A

Chr 19AD

RAB3A, member RAS oncogene family

Also known as: SCA52

NCBI Gene: 5864 ENSG00000105649 UniProt: P20336 OMIM: 179490

RAB3A encodes a small GTPase that controls regulated exocytosis and secretion by recruiting, tethering and docking secretory vesicles to the plasma membrane in neurons and other cell types. Mutations cause spinocerebellar ataxia 52 with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI = 0.95, LOEUF = 0.32), reflecting its essential role in vesicle trafficking.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables GTPase activity and myosin V binding activity. Involved in several processes, including acrosomal vesicle exocytosis; plasma membrane repair; and regulation of plasma membrane repair. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spinocerebellar ataxia 52MIM #621535

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

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P/LP missense

0.32

LOEUF· LoF intol.

Multiple*

Mechanism· predicted