DISEASES

Disease-gene associations mined from literature

Literature associating NGRN and camptodactyly-arthropathy-coxa vara-pericarditis syndrome

NGRN [ENSP00000368389]

Neugrin; Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system.

Synonyms:  NGRN,  A0A087WWE0,  Q9NPE2,  Q9NPE2p,  hQ9NPE2 ...

Linkouts:  STRING  Pharos  UniProt