| Gene Symbol | C19ORF12 |
| Aliases | C19ORF12PROTEIN |
| Chromosome | 19q12 |
| Function | encodes a mitochondrial membrane protein that is highly expressed in the brain. |
| Subcellular Localization | </span><span class="infobox-value">Mitochondria, endoplasmic reticulum, MAMs</span></div> |
| Molecular Weight | 17 kDa |
| Amino Acids | 152 aa |
| Exons | 4 |
| Ensembl ID | ENSG00000131368 |
| GeneCards | C19ORF12 |
| Human Protein Atlas | C19ORF12 |
| No recognisable conserved domains | bioinformatic analyses have not identified catalytic motifs, yet the protein is highly conserved in vertebrates, suggesting a critical structural or scaffolding role[@venco2015] |
| MRI "eye of the tiger" sign | T2-hypointense globus pallidus with a central hyperintense streak, indistinguishable from PKAN on imaging alone |
| p.Gly69ArgfsX10 | most common founder mutation in Eastern European populations |
| p.Thr11Met | recurrent missense variant disrupting N-terminal amphipathic helix |
| Associated Diseases | Dystonia, Iron Accumulation, Ms, Neurodegeneration, Parkinson |
| KG Connections | 17 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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