EXPH5, Official Symbol EXPH5provided by HGNC Official Full Name exophilin 5provided by HGNC Primary source HGNC:HGNC:30578 See related Ensembl:ENSG00000110723 MIM:612878; AllianceGenome:HGNC:30578 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EBS4; SLAC2B; SLAC2-B 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] Expression Biased expression in skin (RPKM 9.2), esophagus (RPKM 2.8) and 9 other tissues See more Orthologs mouse all