Chromosome 19 open reading frame 67 (C19orf67)

Chromosome 19 open reading frame 67 (C19orf67) is a protein-coding human gene encoding the UPF0575 protein, which is conserved across mammals, some reptiles, and most jawed fish. The protein is predicted to localize to the nucleus and contains a DUF3314 domain of unknown function, with no definitive biochemical activity or role described to date. C19orf67 is highly expressed in testis and breast tissue and at low levels in several other tissues, suggesting a role in specialized cell types. Clinical reports note loss of C19orf67 in large chromosomal deletions associated with intellectual disability and developmental delays, though causality is unproven. There are no known interacting drugs, direct disease associations, or defined safety concerns. The gene may serve as a biomarker for mature beta cells.

Other names

UPF0575 proteinhypothetical protein LOC646457