DISEASES

Disease-gene associations mined from literature

Literature associating RPUSD4 and Raynaud-Claes syndrome

RPUSD4 [ENSP00000298317]

Mitochondrial RNA pseudouridine synthase RPUSD4; Catalyzes uridine to pseudouridine isomerization (pseudouridylation) of different mitochondrial RNA substrates. Acts on position 1397 in 16S mitochondrial ribosomal RNA (16S mt-rRNA). This modification is required for the assembly of 16S mt-rRNA into a functional mitochondrial ribosome . Acts on position 39 in mitochondrial tRNA(Phe) . As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mt-rRNA, controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation . ; Belongs to the pseudouridine synthase RluA family.

Synonyms:  RPUSD4,  RPUSD4p,  hRPUSD4,  E9PJV3,  Q96CM3 ...

Linkouts:  STRING  Pharos  UniProt