RAB18

The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

Full Name

RAB18, Member RAS Oncogene Family

Function

Required for the localization of ZFYVE1 to lipid droplets and for its function in mediating the formation of endoplasmic reticulum-lipid droplets (ER-LD) contacts (PubMed:30970241).
Plays a role in apical endocytosis/recycling (By similarity).
Plays a key role in eye and brain development and neurodegeneration (PubMed:21473985).

Biological Process

Biological Process brain developmentISS:UniProtKB
Biological Process endoplasmic reticulum tubular network organizationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process eye developmentISS:UniProtKB
Biological Process intracellular protein transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process lipid droplet organizationManual Assertion Based On ExperimentIMP:MGI
Biological Process small GTPase mediated signal transduction1 PublicationNAS:UniProtKB

Cellular Location

Apical cell membrane
Lipid droplet

Involvement in disease

Warburg micro syndrome 3 (WARBM3):
A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism.