Aliases for RAB39B Gene
External Ids for RAB39B Gene
Previous HGNC Symbols for RAB39B Gene
Previous GeneCards Identifiers for RAB39B Gene
This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013]
GeneCards Summary for RAB39B Gene
RAB39B (RAB39B, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB39B include Waisman Syndrome and X-Linked Non-Specific Intellectual Disability. Among its related pathways are Metabolism of proteins and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include GTP binding and myosin V binding. An important paralog of this gene is RAB39A.
UniProtKB/Swiss-Prot for RAB39B Gene
Small GTPases Rab involved in autophagy (PubMed:27103069). 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 sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:27103069). May regulate the homeostasis of SNCA/alpha-synuclein. Together with PICK1 proposed to ensure selectively GRIA2 exit from the endoplasmic reticulum to the Golgi and to regulate AMPAR compostion at the post-synapses and thus synaptic transmission (By similarity).