C19orf12 chromosome 19 open reading frame 12
Gene ID: 83636, updated on 27-Nov-2024Gene type: protein coding
Also known as: MPAN; NBIA3; NBIA4; SPG43
- See all available tests in GTR for this gene
- Go to complete Gene record for C19orf12
- Go to Variation Viewer for C19orf12 variants
Summary
This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Associated conditions
Genomic context
- Location:
- 19q12
- Sequence:
- Chromosome: 19; NC_000019.10 (29698886..29715789, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for C19orf12 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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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