EXPH5 Gene

The EXPH5 gene (EXPH5 stands for exophilin 5) is a protein-coding gene located on chromosome 11q22.3. The protein encoded by this gene belongs to the family of "synaptotagmin-like proteins" (Slp), which lack a C2 domain. The protein contains an N-terminal synaptotagmin-like homology domain (SHD) and is a Ras-related Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle transport. Decreased expression of this gene leads to defects in keratin filaments. Alternative splicing results in multiple transcript variants encoding different isoforms.

Diseases associated with EXPH5 include:

• Epidermolysis bullosa simplex, autosomal recessive, localized or generalized, intermediate (OMIM: 615028).

1. McGrath et al (2012) Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility. Am. J. Hum. Genet. 91: 1115-1121.
2. Ostrowski M et al. (2010) Rab27a and Rab27b control different steps of the exosome secretion pathway. Nat Cell Biol 12:19-30.
3. Yue B et al (2020) Exosome biogenesis, secretion and function of exosomal miRNAs in skeletal muscle myogenesis. Cell Prolif 53:e12857.
4. Zhang Y et al (2019) Exosomes: Biogenesis, Biologic Function and Clinical Potential. Cell Biosci 9:19.
5. Turcan I et al (2016) Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations. JAMA Dermatol152:1137-1141.