Chromosome 17 open reading frame 67 (C17orf67)

Chromosome 17 open reading frame 67 (C17orf67) is a human protein encoded by the C17orf67 gene, classified as a protein-coding gene of unknown function[1][3][7]. The protein is predicted to localize to the extracellular region, but detailed experimental evidence for its function or localization is lacking[2][7]. Genome-wide association and genetic studies have linked variants in or near C17orf67 with increased pubertal height velocity and a predisposition to adolescent idiopathic scoliosis, as well as to developmental anomalies seen in 17q22 microdeletion syndrome, including intellectual disability and skeletal abnormalities[2]. However, the precise cellular role, molecular mechanism, and biochemical activities of C17orf67 remain undetermined. No drugs, therapeutic agents, or direct disease mechanisms are currently established, and the protein is regarded as uncharacterized in the biomedical literature[2][7].

Other names

Chromosome 17 open reading frame 67C17orf67CQ067_HUMANuncharacterized protein C17orf67