OGDHL
Chr 10oxoglutarate dehydrogenase L
Also known as: YOBELN
The protein functions as a component of the 2-oxoglutarate dehydrogenase complex, catalyzing the conversion of 2-oxoglutarate to succinyl-CoA in the mitochondrial tricarboxylic acid cycle. Mutations in this gene cause autosomal recessive succinic semialdehyde dehydrogenase deficiency, a metabolic disorder affecting the central nervous system. The gene shows tolerance to loss-of-function variation (LOEUF 0.686), suggesting that complete loss of function may be compatible with survival in the recessive state.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
240 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 | 0 | 0 | 19 | 0 | 19 |
Likely Pathogenic | 3 | 1 | 11 | 0 | 15 |
VUS | 0 | 132 | 19 | 0 | 151 |
Likely Benign | 0 | 6 | 2 | 14 | 22 |
Benign | 0 | 2 | 0 | 3 | 5 |
Conflicting | — | 2 | |||
| Total | 3 | 141 | 51 | 17 | 214 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
OGDHL · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools