C19ORF12
C19ORF12 (Chromosome 19 Open Reading Frame 12): C19ORF12 is a gene located on chromosome 19 that encodes a protein with a currently unclear function. This protein is believed to be involved in maintaining mitochondrial integrity and metabolism. Its importance is highlighted by its association with neurodegeneration with brain iron accumulation (NBIA), specifically mitochondrial membrane protein-associated neurodegeneration (MPAN). C19ORF12 is thought to support mitochondrial function, possibly through roles in lipid metabolism or by protecting mitochondrial membranes from oxidative stress. Mutations in this gene have been linked to progressive neurological symptoms, such as motor dysfunction, cognitive decline, and iron accumulation in the brain.
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