Aliases for RAB27A Gene
External Ids for RAB27A Gene
Previous GeneCards Identifiers for RAB27A Gene
The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for RAB27A Gene
RAB27A (RAB27A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB27A include Griscelli Syndrome, Type 2 and Griscelli Syndrome. Among its related pathways are Cytoskeletal Signaling and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include GTP binding and protein domain specific binding. An important paralog of this gene is RAB27B.
UniProtKB/Swiss-Prot Summary for RAB27A Gene
Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion (PubMed:30771381). Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse.