Ras-related protein Rab-18
Function
The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:24891604, PubMed:30970241). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:24891604, PubMed:30970241). 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). Also required for maintaining endoplasmic reticulum structure (PubMed:24891604). Plays a role in apical endocytosis/recycling (By similarity). Plays a key role in eye and brain development and neurodegeneration (PubMed:21473985).
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the small GTPase superfamily. Rab family.
Tissue Specificity
Ubiquitous.
Cellular localization
- Apical cell membrane
- Lipid droplet
- Endoplasmic reticulum membrane
Alternative names
Ras-related protein Rab-18, RAB18