Chromosome 16 open reading frame 96 (C16orf96)

Chromosome 16 open reading frame 96 (C16orf96) encodes a large, uncharacterized human protein of 1,141 amino acids, with a molecular mass of approximately 125 kDa and an isoelectric point of 6.58[2]. The protein is predicted to localize mainly to the nucleus, with minor distribution in the cytosol and mitochondria[2]. It contains several conserved domains, including an RNA recognition motif, a Merozoite surface protein-1 (MSP-1) domain, a pentapeptide repeat (MXKDX), and a domain of unknown function (DUF1387), but its precise molecular function remains undefined[2]. The high proline content and multiple predicted serine phosphorylation sites could suggest regulatory roles or unique structural features[2]. C16orf96 does not belong to major drug target classes such as enzymes, receptors, or transporters, and there are no known specific drugs or approved clinical interventions targeting it[1][3]. The gene has been weakly linked to coloboma of the optic nerve, but there is no established pathogenic mechanism or therapeutic application[1]. As of current knowledge, C16orf96 is not considered a validated therapeutic target, and its biological roles remain largely unexplored.

Other names

C16orf96Uncharacterized protein C16orf96Chromosome 16 open reading frame 96