Disease-gene associations mined from literature

Literature associating SUCLA2 and infantile cerebellar-retinal degeneration

SUCLA2 [ENSP00000367923]

Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial; ATP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of ATP and thus represents the only step of substrate-level phosphorylation in the TCA. The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit (By similarity).

Synonyms:  SUCLA2,  SUCLA2p,  hSUCLA2,  DKFZP564P2062,  E5KS60 ...

Linkouts:  STRING  Pharos  UniProt  OMIM