Uncharacterized protein C17orf50 (C17orf50)

Uncharacterized protein C17orf50 is encoded by the *C17orf50* gene located at 17q12 on the long arm of human chromosome 17, spanning 4,200 base pairs and transcribing a 174 amino acid protein[4]. It contains a prominent glutamate-rich (negatively charged) region and is predicted to localize to the nucleus owing to three nuclear localization signals[4]. Its defining feature is a large domain of unknown function (DUF4673), extending almost the entire length of the protein. Expression is low in most tissues but somewhat higher in the fetal brain. The protein, also known as cholesin, has been proposed (without experimental confirmation) to bind to GPR146, implying a possible, but unproven, link to cholesterol regulation[4]. There are no described paralogs in humans, and its function, disease associations, or therapeutic relevance remain undefined. In summary, C17orf50 is a conserved, nuclear-localized, rapidly evolving protein with poorly understood biology, not currently recognized as a therapeutic target, and lacking both known disease relevance and drug interactions[4].

Other names

chromosome 17 open reading frame 50C17orf50cholesin