Aliases for EXPH5 Gene
External Ids for EXPH5 Gene
Previous GeneCards Identifiers for EXPH5 Gene
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]
GeneCards Summary for EXPH5 Gene
EXPH5 (Exophilin 5) is a Protein Coding gene. Diseases associated with EXPH5 include Epidermolysis Bullosa, Nonspecific, Autosomal Recessive and Epidermolysis Bullosa Simplex Due To Exophilin 5 Deficiency. Among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer. GO annotations related to this gene include Rab GTPase binding.
UniProtKB/Swiss-Prot for EXPH5 Gene
May act as Rab effector protein and play a role in vesicle trafficking.