DISEASES

Disease-gene associations mined from literature

Literature associating RCC1L and optic disk drusen

RCC1L [ENSP00000480364]

RCC1-like G exchanging factor-like protein; Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. Activates OPA1, by exchanging bound GDP for free GTP, and drives OPA1 and MFN1-dependent mitochondrial fusion . 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:  RCC1L,  RCC1Lp,  hRCC1L,  A0A087WT38,  Q96I51 ...

Linkouts:  STRING  Pharos  UniProt