InterPro domain: IPR044234

General Information

  • Identifier IPR044234
  • Description Transmembrane protein 230
  • Number of genes 307
  • Gene duplication stats Loading...

Abstract

This family represents the transmembrane protein 230 (TMEM230) which is involved in trafficking and recycling of synaptic vesicles. Mutations in this protein lead to vesicle trafficking defects associated with Parkinson's disease pathogenesis [ 1 ].


1. Identification of TMEM230 mutations in familial Parkinson's disease. Nat Genet 48, 733-9

Species distribution

Gene table