SUCLG1
Chr 2ARsuccinate-CoA ligase GDP/ADP-forming subunit alpha
Also known as: GALPHA, MTDPS9, SUCLA1
The protein encodes the alpha subunit of succinate coenzyme A ligase, a mitochondrial enzyme that catalyzes the conversion of succinyl CoA and ADP/GDP to succinate and ATP/GTP in the citric acid cycle. Mutations cause mitochondrial DNA depletion syndrome 9, an autosomal recessive disorder characterized by encephalomyopathy with methylmalonic aciduria and fatal infantile lactic acidosis. The pathogenic mechanism involves mitochondrial dysfunction leading to impaired energy metabolism and secondary mitochondrial DNA depletion.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
395 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 18 | 4 | 13 | 0 | 35 |
Likely Pathogenic | 5 | 5 | 2 | 0 | 12 |
VUS | 0 | 124 | 15 | 3 | 142 |
Likely Benign | 0 | 3 | 80 | 67 | 150 |
Benign | 0 | 0 | 28 | 0 | 28 |
Conflicting | — | 20 | |||
| Total | 23 | 136 | 138 | 70 | 387 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SUCLG1 · 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