|Full name||transmembrane protein 230|
TMEM230, also known as C20orf30, is a gene on chromosome 20. It encodes a putative transmembrane protein (TMEM230) localized in synaptic vesicles.
10.1038/ng.3589 Researchers have found several TMEM230 mutations considered causative for Parkinson's disease; they include:
- c.422G>T, p.Arg141Leu
- c.550_552delTAGinsCCCGGG, p.*184ProGlyext*5
- c.551A>G, p.*184Trpext*5
- c.275 A>G, p.Tyr92Cys
- note these last two mutations were seen in only a single patient each, so their pathogenicity is not confirmed
At this time, none of these mutations have rs-identifiers in dbSNP.