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 and martsolf syndrome. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Vesicle-mediated transport. GO annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB33A.
UniProtKB/Swiss-Prot for RAB18 Gene
Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration.