The TMEM230 gene at 20p13-p12 encodes a 120 amino acid peptide transmembrane protein 230 which has two isoforms produced by alternative splicing. This is a transmembrane protein found lining secretory/recycling vesicles, including synaptic vesicles in neurons.
- ↑ Deng HX, Shi Y, Yang Y, Ahmeti KB, Miller N, Huang C, Cheng L, Zhai H, Deng S, Nuytemans K, Corbett NJ, Kim MJ, Deng H, Tang B, Yang Z, Xu Y, Chan P, Huang B, Gao XP, Song Z, Liu Z, Fecto F, Siddique N, Foroud T, Jankovic J, Ghetti B, Nicholson DA, Krainc D, Melen O, Vance JM, Pericak-Vance MA, Ma YC, Rajput AH, Siddique T. Identification of TMEM230 mutations in familial Parkinson's disease. Nature genetics. 2016 Jul; 48(7):733-739.(Print-Electronic) (Link to article – subscription may be required.)