TMEM230
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | transmembrane protein 230 |
| Other names | C20orf30 |
| EntrezGene | 29058 |
| PheGenI | 29058 |
| VariationViewer | 29058 |
| ClinVar | TMEM230 |
| GeneCards | TMEM230 |
| dbSNP | 29058 |
| Diseases | TMEM230 |
| SADR | 29058 |
| HugeNav | 29058 |
| wikipedia | TMEM230 |
| TMEM230 | |
| gopubmed | TMEM230 |
| EVS | TMEM230 |
| HEFalMp | TMEM230 |
| MyGene2 | TMEM230 |
| 23andMe | TMEM230 |
| UniProt | Q96A57 |
| Ensembl | ENSG00000089063 |
| # SNPs | 0 |
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.
