Aliases for RAB11B Gene
External Ids for RAB11B Gene
Previous GeneCards Identifiers for RAB11B Gene
The Ras superfamily of small GTP-binding proteins, which includes the Ras (see MIM 190020), Ral (see MIM 179550), Rho (see MIM 165390), Rap (see MIM 179520), and Rab (see MIM 179508) families, is involved in controlling a diverse set of essential cellular functions. The Rab family, including RAB11B, appears to play a critical role in regulating exocytotic and endocytotic pathways (summary by Zhu et al., 1994 [PubMed 7811277]).[supplied by OMIM, Nov 2010]
GeneCards Summary for RAB11B Gene
RAB11B (RAB11B, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB11B include Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter and Hypotrichosis 3. Among its related pathways are Metabolism of proteins and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB11A.
UniProtKB/Swiss-Prot for RAB11B Gene
The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab plays a role in endocytic recycling, regulating apical recycling of several transmembrane proteins including cystic fibrosis transmembrane conductance regulator/CFTR, epithelial sodium channel/ENaC, potassium voltage-gated channel, and voltage-dependent L-type calcium channel. May also regulate constitutive and regulated secretion, like insulin granule exocytosis. Required for melanosome transport and release from melanocytes. Also regulates V-ATPase intracellular transport in response to extracellular acidosis.