OnlineIMD
SUCLA2-related succinate-CoA ligase deficiency
Synonym(s)
Mitochondrial DNA depletion syndrome type 5, ATP-specific succinyl-CoA synthetase subunit beta deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
VMH
Gene
SUCLA2
/ Succinate-CoA Ligase ADP-Forming Beta Subunit
13q14.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Succinate-CoA ligase [ADP-forming] subunit beta, mitochondrial
Multimer
Succinyl-CoA ligase
Pathway
Pyruvate metabolism and Krebs cycle
Parent entry
Succinate-CoA ligase deficiency