U3 small nucleolar RNA-associated protein 14 homolog C (UTP14C)

U3 small nucleolar RNA-associated protein 14 homolog C (UTP14C) is a protein-coding gene that encodes a component of the small subunit processome, a large ribonucleoprotein complex essential for processing of precursor rRNA and ribosome biogenesis; it is particularly crucial for spermatogenesis and is required for proper protein synthesis during male meiosis. Mutations in UTP14C have been associated with meiotic arrest and male infertility in humans, making it a critical factor for male reproductive fitness but not a current therapeutic target or receptor. UTP14C is mainly expressed in the testis and ovary, indicating a role in gonad-specific functions and fertility. Disruption or mutations in the gene result in spermatogenic failure and have been linked to congenital disorders of glycosylation. Its molecular function is mainly as a factor in ribosome assembly, not as an enzyme, receptor, or other classical therapeutic target. No recorded drugs, mechanisms of action, or therapeutic interventions are currently associated with UTP14C. It is not considered a classical drug target, but pathogenic variants may serve as biomarkers for assessing risks of infertility. UTP14B, sometimes listed as an alias, is instead a related but distinct paralog or retrogene in some species and should not be conflated with UTP14C except where historical nomenclature confusion exists.

Other names

KIAA02662700066J21RikUTP14, U3 small nucleolar ribonucleoprotein, homolog CUTP14, small subunit processome component homolog CUTP14B