TMEM230 Chromosome 20
Transmembrane protein 230
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What This Gene Does
This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicle in the neuron and may be involved in synaptic vesicles trafficking and recycling. Mutations in this gene may be linked to familial Parkinson's disease. [provided by RefSeq, Mar 2017]
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145815993 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780164928 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764786986 | Health Risk | Pathogenic | — |