Disease-gene associations mined from literature

Literature associating SUCLG1 and infantile cerebellar-retinal degeneration

SUCLG1 [ENSP00000377446]

Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial; Succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of either ATP or GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The alpha subunit of the enzyme binds the substrates coenzyme A and phosphate, while succinate binding and specificity for either ATP or GTP is provided by different beta subunits.

Synonyms:  SUCLG1,  SUCLG1p,  hSUCLG1,  P53597,  Q6IAL5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM