RAB12

Chr 18

RAB12, member RAS oncogene family

NCBI Gene: 201475 ENSG00000206418 UniProt: Q6IQ22

RAB12 encodes a small GTPase that regulates intracellular membrane trafficking, specifically protein transport from recycling endosomes to lysosomes and autophagy processes. Mutations cause Warburg micro syndrome, an autosomal recessive disorder characterized by microcephaly, microphthalmia, congenital cataracts, intellectual disability, and hypogonadism. The gene shows tolerance to loss-of-function variants (pLI 0.04, LOEUF 0.84), consistent with the recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

Enables GDP binding activity. Predicted to be involved in several processes, including endocytic recycling; endosome to lysosome transport; and positive regulation of macroautophagy. Predicted to act upstream of or within cellular response to type II interferon. Predicted to be located in lysosome; phagocytic vesicle; and recycling endosome membrane. Predicted to be active in cytoplasmic vesicle and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.84

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)