C19ORF12 (Chromosome 19 Open Reading Frame 12): C19ORF12, located on chromosome 19, encodes a protein of currently unclear function but is implicated in mitochondrial integrity and metabolism. Its significance has been underscored by its association with neurodegeneration with brain iron accumulation (NBIA), specifically mitochondrial membrane protein-associated neurodegeneration (MPAN). This protein is thought to play a role in the maintenance of mitochondrial function, possibly through involvement in lipid metabolism or the protection of mitochondrial membranes from oxidative stress. Mutations in the C19ORF12 gene have been linked to progressive neurological symptoms, including motor dysfunction, cognitive decline, and iron accumulation in the brain. The precise mechanisms by which C19ORF12 contributes to mitochondrial homeostasis and neuroprotection remain an active area of research, with implications for understanding and treating mitochondrial and neurodegenerative disorders.


Test(s) that measure/test for C19ORF12

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