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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.
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Protein Aliases: Antigen NY-CO-16; Jsd-like X-linked protein; Juvenile spermatogonial depletion-like X-linked protein; Serologically defined colon cancer antigen 16; U3 small nucleolar RNA-associated protein 14 homolog A; UTP14, U3 small nucleolar ribonucleoprotein, homolog A; UTP14A small subunit (SSU) processome component
Gene Aliases: 2700066J21Rik; dJ537K23.3; JsdX; Kiaa0266; mKIAA0266; NY-CO-16; NYCO16; SDCCAG16; T25628; UTP14A
Molecular Function: RNA metabolism protein