Chromosome 9 open reading frame 50 (C9orf50)

Chromosome 9 open reading frame 50 (C9orf50) encodes a human protein of 431 amino acids (~47.6 kDa) whose function is currently unknown. It contains a DUF4685 domain (domain of unknown function), is highly conserved across mammals, and exists in multiple alternatively spliced forms. The C9orf50 protein localizes mainly to the nucleus but is also found in mitochondria and cytosol. Expression is generally low across most tissues but is relatively higher in testes, brain, and gallbladder. There are no well-established roles in cellular processes, nor any known protein or small molecule ligands or interacting drugs. Recent research has focused on the gene's methylation status as a promising epigenetic biomarker for colorectal cancer, with no direct therapeutic action or targetability demonstrated to date. In summary, C9orf50 is an uncharacterized nuclear protein with no current evidence of being a receptor, enzyme, or other classic druggable target, but it is gaining attention as a cancer biomarker due to its aberrant methylation pattern in colorectal tumors.

Other names

C9orf50Chromosome 9 open reading frame 50FLJ35803Uncharacterized protein C9orf50

None known, as no drugs or inhibitors have been described for C9orf50