SUCLA2
Chr 13ARsuccinate-CoA ligase ADP-forming subunit beta
Also known as: A-BETA, A-SCS, LINC00444, MTDPS5, SCS-betaA
The protein encodes the ATP-specific beta subunit of succinyl-CoA synthetase, which dimerizes with the alpha subunit to form an essential tricarboxylic acid cycle enzyme that hydrolyzes ATP to convert succinate to succinyl-CoA in the mitochondrial matrix. Biallelic mutations cause mitochondrial DNA depletion syndrome 5, an autosomal recessive encephalomyopathy that may present with or without methylmalonic aciduria. The pathogenic mechanism involves loss of function leading to impaired mitochondrial energy metabolism.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SUCLA2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Treating Breast Cancer Patients Undergoing Trastuzumab Treatment With Carvedilol to Reduce Incidence of Heart Failure
ACTIVE NOT RECRUITINGImpact of C-Mill Rehabilitation on the Gut-Brain Axis in Parkinson's Disease
RECRUITINGDeoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
RECRUITINGExternal Resources
Links to major genomics databases and tools