DISEASES

Disease-gene associations mined from literature

Literature associating NOP10 and aplastic anemia

NOP10 [ENSP00000332198]

H/ACA ribonucleoprotein complex subunit 3; Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.

Synonyms:  NOP10,  NOP10p,  hNOP10,  H0YM60,  Q9NPE3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM