Aliases for RAB18 Gene
External Ids for RAB18 Gene
Previous GeneCards Identifiers for RAB18 Gene
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]
GeneCards Summary for RAB18 Gene
RAB18 (RAB18, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB18 include Warburg Micro Syndrome 3 and Warburg Micro Syndrome 1. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB12.
UniProtKB/Swiss-Prot Summary for RAB18 Gene
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).