| Gene Symbol | C19orf12 |
|---|---|
| Full Name | Chromosome 19 Open Reading Frame 12 |
| Chromosomal Location | 19q12 |
| NCBI Gene ID | 83747 |
| OMIM | 614297 |
| Ensembl ID | ENSG00000131368 |
| UniProt ID | Q9Y382 |
| Associated Diseases | Neurodegeneration with Brain Iron Accumulation (NBIA), Hereditary Spastic Paraplegia |
C19orf12 encodes a mitochondrial membrane protein that is highly expressed in the brain. Mutations in this gene cause a form of neurodegeneration with brain iron accumulation (NBIA), a group of disorders characterized by progressive neurological dysfunction and iron deposition in the brain.
C19orf12 is a mitochondrial protein involved in:
Biallelic mutations in C19orf12 cause MAPLA-NBIA (Mitochondrial Membrane Protein-Associated Neurodegeneration with Brain Iron Accumulation), characterized by:
C19orf12 mutations can also cause hereditary spastic paraplegia (SPG43) with:
C19orf12 shows high expression in:
Subcellular localization is mitochondrial.
Last updated: 2026-03-08