DISEASES

Disease-gene associations mined from literature

Literature associating TTC19 and infantile cerebellar-retinal degeneration

TTC19 [ENSP00000261647]

Tetratricopeptide repeat protein 19, mitochondrial; Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1. Involved in the clearance of UQCRFS1 N-terminal fragments, which are produced upon incorporation of UQCRFS1 into the complex III and whose presence is detrimental for its catalytic activity; Tetratricopeptide repeat domain containing

Synonyms:  TTC19,  TTC19p,  hTTC19,  A0A024RD83,  K7EJA1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM