Chromosome 15 open reading frame 62 (C15orf62)

Chromosome 15 open reading frame 62 (C15orf62) encodes a mitochondrial protein whose function has not been experimentally characterized. Bioinformatic predictions suggest roles in small GTPase binding, regulation of cell shape, Rho protein signal transduction, and actin filament polymerization, possibly implicating it in cytoskeletal and cellular signaling processes. Rare inherited and de novo genetic variants in C15orf62 have been observed in individuals with autism spectrum disorder, and statistical analyses indicate it may be an ASD candidate gene, but causality is not established and no mechanistic details are available. No interacting drugs, biomarkers, or established disease-modifying functions are reported. C15orf62 remains a poorly characterized and non-canonical target in both basic research and clinical contexts[1][5][12][14][15].

Other names

Uncharacterized protein C15orf62, mitochondrialLOC643338CO062 protein