Chromosome 4 open reading frame 51 (C4orf51)

Chromosome 4 open reading frame 51 (C4orf51) encodes a 202-amino acid nuclear protein in humans. It contains a single, conserved domain of unknown function (DUF4722, amino acids 1–168) covering most of the protein. Structural analysis predicts alpha-helices and one beta-sheet, and the protein is likely localized to the nucleus, based on a conserved nuclear localization motif. Predicted dimerization has been observed in some gel experiments. The C4orf51 gene is expressed at low levels in most tissues except testes, but can be highly expressed in differentiation-defective pluripotent stem cells. Its regulation might be affected by contained HERV LTRs. There are no known paralogs, but orthologs exist across various mammalian and reptilian species. There is currently no experimentally confirmed biological function or molecular pathway, and no interacting proteins have been identified. Clinical data are extremely limited; deletions including C4orf51 and other genes are associated with syndromic developmental abnormalities, but causality is undetermined. There is no evidence that C4orf51 acts as a therapeutic target, nor are drugs, mechanisms of action, biomarkers, or specific safety concerns known.

Other names

C4orf51uncharacterized protein C4orf51