Chromosome 9 open reading frame 43 (C9orf43)

Chromosome 9 open reading frame 43 (C9orf43) is a human protein encoded by the C9orf43 gene, located at chromosome 9q32, with several aliases including MGC17358 and LOC257169[1]. The protein is characterized by the presence of a DUF4647 domain (domain of unknown function), a polyglutamine repeat, and is predicted to be mostly intracellular, localizing to the nucleus[1]. C9orf43's function remains uncharacterized, and it is not currently classified as a receptor, enzyme, transporter, or typical drug target. The gene is expressed widely, with higher expression in the testes but present in numerous fetal and adult tissues[1]. Although there are predicted protein-protein interactions (such as with olfactory receptors and sperm-associated voltage-gated calcium channels), there is no direct evidence of C9orf43 serving as a drug target, nor are there known drugs, biomarkers, or therapeutic safety concerns associated with it[1]. The protein has no known paralogs but has orthologs across mammals and reptiles, suggesting evolutionary conservation; however, its biological role and potential disease associations remain unclear. It was flagged as a candidate gene in a familial myelodysplastic syndrome sequencing study, but functional evidence for a role in disease is lacking[2].

Other names

C9orf43MGC17358LOC257169uncharacterized protein C9orf43chromosome 9 open reading frame 43