| Modification Notes |
UTP14C (UTP14, U3 small nucleolar ribonucleoprotein), also known as UTP14B, is a 766 amino acid protein that localizes to the nucleolus and belongs to the UTP14 family. Expressed in testicular tissue, UTP14C functions as an essential component of spermatogenesis and is specifically required for ribosome biogenesis and protein synthesis during male meiosis. UTP14A, a related protein, may also be required for ribosome biogenesis, but not necessarily in a male-specific manner. The gene encoding UTP14C maps to human chromosome 13, which houses over 400 genes, such as BRCA2 and RB1, and comprises nearly 4% of the human genome. As with most chromosomes, polysomy of part or all of chromosome 13 is deleterious to development and decreases the odds of survival. Trisomy 13, also known as Patau syndrome, is deadly and the few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections. |
