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 Non-Syndromic X-Linked Intellectual Disability. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Vesicle-mediated transport. 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 Summary 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).