exophilin 5

SLAC2-B

synaptotagmin-like homologue lacking C2 domains b

Exophilin-5

Synaptotagmin-like protein homolog lacking C2 domains b

SlaC2-b

Slp homolog lacking C2 domains b

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].

Varaico: Literature-Extracted Genetic Variants

EXPH5

RefSeq Summary

Gene Aliases

HGNC Name

HGNC Alias Symbol