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RNA tissue category: Group enriched (cerebellum, placenta)
GENE INFORMATION
Gene name
EXPH5 (HGNC Symbol)
Synonyms
SLAC2-B
Description
Exophilin 5 (HGNC Symbol)
Entrez gene summary
The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]