OGDH

Chr 7

oxoglutarate dehydrogenase

Also known as: AKGDH, E1k, E1o, HsOGDH, KGD1, OGDC, OGDH-E1, OGDH2

NCBI Gene: 4967ENSG00000105953UniProt: Q02218

This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
46
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.27
LOEUF· LoF intol.
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.27LOEUF
pLI 0.997
Z-score 5.70
OE 0.15 (0.09–0.27)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
4.76Z-score
OE missense 0.47 (0.43–0.52)
304 obs / 643.9 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.15 (0.09–0.27)
0≤0.351.4
Missense OE?0.47 (0.43–0.52)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 8 / 52.6Missense obs/exp: 304 / 643.9Syn Z: 0.04

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

OGDH · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients