Chromosome 16 open reading frame 90 (C16orf90)

Chromosome 16 open reading frame 90 (C16orf90) encodes a small (~21 kDa), soluble, uncharacterized human protein with four alpha-helix domains and a nuclear localization signal at its C-terminus[2][4]. The gene is located at 16p13.3, spans 3169 nucleotides on the reverse strand, and has three exons. C16orf90 is primarily expressed in the testes and at low levels throughout other tissues. Evidence from microarray and post-translational modification studies suggests possible roles in the biological stress response and apoptosis, but its exact function remains unclear. Evolutionarily, it is present across mammals, with conservation particularly in exons 2 and 3. Clinically, variants in C16orf90 have been identified as potentially pathogenic in some cases of intellectual disability, but no direct evidence currently supports its use as a biomarker, therapeutic target, or in drug interaction studies[2].

Other names

C16orf90LOC646174uncharacterized protein C16orf90