TMEM230 transmembrane protein 230
Gene ID: 29058, updated on 17-Jun-2024Gene type: protein coding
Also known as: HSPC274; C20orf30; dJ1116H23.2.1
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- Go to complete Gene record for TMEM230
- Go to Variation Viewer for TMEM230 variants
Summary
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]
Genomic context
- Location:
- 20p13-p12.3
- Sequence:
- Chromosome: 20; NC_000020.11 (5059116..5113076, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TMEM230 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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