DISEASES

Disease-gene associations mined from literature

Literature associating DKC1 and Shwachman-Diamond syndrome

DKC1 [ENSP00000358563]

H/ACA ribonucleoprotein complex subunit 4; Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of 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. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.

Synonyms:  DKC1,  DKC1p,  hDKC1,  C9IYT0,  H7C2Q9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM