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TMEM230

From SNPedia

is agene
is mentioned by
Full nametransmembrane protein 230
Other namesC20orf30
EntrezGene29058
PheGenI29058
VariationViewer29058
ClinVarTMEM230
GeneCardsTMEM230
dbSNP29058
SADR29058
HugeNav29058
wikipediaTMEM230
googleTMEM230
gopubmedTMEM230
EVSTMEM230
HEFalMpTMEM230
MyGene2TMEM230
23andMeTMEM230
UniProtQ96A57
EnsemblENSG00000089063
# SNPs0

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.