SDHA
Chr 5ARADsuccinate dehydrogenase complex flavoprotein subunit A
The protein functions as the major catalytic subunit of succinate-ubiquinone oxidoreductase (mitochondrial complex II) in the inner mitochondrial membrane, catalyzing electron transfer in the respiratory chain. Mutations cause mitochondrial complex II deficiency leading to Leigh syndrome, neurodegeneration with ataxia and late-onset optic atrophy, dilated cardiomyopathy, and pheochromocytoma/paraganglioma syndrome through loss of function. Inheritance can be either autosomal recessive or autosomal dominant depending on the specific mutation and associated phenotype.
Definitive — sufficient evidence for diagnostic panels
4 total gene-disease associations curated
Some data sources returned errors (1)
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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
SDHA · 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
External Resources
Links to major genomics databases and tools