SUCLG1

Chr 2AR

succinate-CoA ligase GDP/ADP-forming subunit alpha

Also known as: GALPHA, MTDPS9, SUCLA1

This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 0.881 OMIM phenotype
Clinical SummarySUCLG1
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Gene-Disease Validity (ClinGen)
Leigh syndrome · ARModerate

Moderate evidence — consider for supplementary testing

Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.88LOEUF
pLI 0.000
Z-score 1.94
OE 0.49 (0.280.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.22Z-score
OE missense 1.04 (0.931.18)
199 obs / 190.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.49 (0.280.88)
00.351.4
Missense OE?1.04 (0.931.18)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 8 / 16.5Missense obs/exp: 199 / 190.6Syn Z: -0.13
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveSUCLG1-related fatal infantile lactic acidosisLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.78top 25%
GOF
0.6248th %ile
LOF
0.3259th %ile

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

0 submitted variants 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.