RAB3GAP1

Chr 2AR

RAB3 GTPase activating protein catalytic subunit 1

Also known as: MARTS2, P130, RAB3GAP, RAB3GAP130, WARBM1

NCBI Gene: 22930 ENSG00000115839 UniProt: Q15042 OMIM: 602536

The protein functions as the catalytic subunit of a Rab3 GTPase-activating complex that regulates GTP hydrolysis by Rab proteins and has guanine nucleotide exchange factor activity toward RAB18, playing essential roles in eye and brain development. Mutations cause Warburg micro syndrome 1 and Martsolf syndrome 2, both autosomal recessive disorders affecting neurodevelopment with ocular abnormalities. The gene is highly constrained against loss-of-function variants (LOEUF 0.535), reflecting its critical developmental functions.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Martsolf syndrome 2MIM #619420

Warburg micro syndrome 1MIM #600118

Clinical highlights

Gene-disease validity (ClinGen)

Warburg micro syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.54

LOEUF

LOF

Mechanism· G2P

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GeneReview available — RAB3GAP1