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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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OGDHL
oxoglutarate dehydrogenase L
Chromosome 10 Β· 10q11.23
NCBI Gene: 55753Ensembl: ENSG00000197444.11HGNC: HGNC:25590UniProt: Q9ULD0
44PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionprotein bindingmitochondrial matrixoxoglutarate dehydrogenase (succinyl-transferring) activityYoon-Bellen neurodevelopmental syndromecancerAbnormal brain morphologygenetic disorder
✦AI Summary

OGDHL (oxoglutarate dehydrogenase L) is a brain-enriched, mitochondrial enzyme that functions as a rate-limiting component of the 2-oxoglutarate dehydrogenase complex (OGDHC), catalyzing the conversion of 2-oxoglutarate to succinyl-CoA in the tricarboxylic acid cycle 1. Beyond its canonical metabolic role, OGDHL exhibits nuclear localization and non-canonical functions including DNA damage induction through CDK4-mediated inhibition of E2F1 signaling, independent of enzymatic activity 2. OGDHL acts as a tumor suppressor in multiple cancer types: its downregulation in hepatocellular carcinoma promotes glutamine metabolic reprogramming, activates mTORC1 signaling, and enhances de novo lipogenesis 3, while in clear cell renal carcinoma, reduced OGDHL expression increases FASN-mediated lipid accumulation and ERK pathway activation 4. In prostate cancer, however, OGDHL loss impairs proliferation and neuroendocrine plasticity 5. OGDHL expression is transcriptionally suppressed by REST in renal fibrosis 6. Biallelic OGDHL variants are associated with neurodevelopmental disorders exhibiting significant phenotypic heterogeneity, including developmental delay, intellectual disability, epilepsy, and corpus callosum dysgenesis, though the gene-disease relationship remains complex 71. OGDHL represents a promising therapeutic target across multiple disease contexts.

Sources cited
1
OGDHL silencing promotes hepatocellular carcinoma through glutamine metabolic reprogramming, activates mTORC1 signaling, and drives de novo lipogenesis
PMID: 31899205
2
Ammonia accumulation suppresses OGDHL expression in HCC, linking OGDHL to glutamine metabolism regulation
PMID: 38450598
3
Biallelic OGDHL variants cause highly heterogeneous neurodevelopmental and neurological disorders with complex inheritance patterns
PMID: 38031187
4
OGDHL localizes to nucleus and induces DNA damage through non-canonical CDK4 inhibition, independent of enzymatic activity
PMID: 37419985
5
OGDHL downregulation in ccRCC promotes lipid synthesis and ERK signaling through TFAP2A/FASN axis
PMID: 37626050
6
OGDHL is a brain-enriched, rate-limiting TCA cycle enzyme linked to neurodevelopmental disorders with diverse phenotypes
PMID: 41463550
7
OGDHL loss in prostate cancer impairs proliferation and reduces nucleotide synthesis independent of TCA cycle activity
PMID: 40502162
8
REST suppresses OGDHL transcription to impair mitochondrial energy metabolism and promote renal fibrosis
PMID: 40200371
Disease Associationsβ“˜21
Yoon-Bellen neurodevelopmental syndromeOpen Targets
0.69Moderate
cancerOpen Targets
0.29Weak
Abnormal brain morphologyOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
depressive disorderOpen Targets
0.19Weak
neoplasmOpen Targets
0.09Suggestive
Female infertility due to fertilization defectOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.09Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
Rare genetic female infertilityOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
cervical cancerOpen Targets
0.08Suggestive
oocyte maturation defect 14Open Targets
0.07Suggestive
oocyte maturation defect 5Open Targets
0.07Suggestive
Hydatidiform MoleOpen Targets
0.07Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.07Suggestive
papillary thyroid carcinomaOpen Targets
0.07Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.07Suggestive
oocyte/zygote/embryo maturation arrest 21Open Targets
0.07Suggestive
Yoon-Bellen neurodevelopmental syndromeUniProt
Pathogenic Variants8
NM_018245.3(OGDHL):c.1135C>T (p.Gln379Ter)Likely pathogenic
Yoon-Bellen neurodevelopmental syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 379
NM_018245.3(OGDHL):c.1685del (p.Asp562fs)Likely pathogenic
Yoon-Bellen neurodevelopmental syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 562
NM_018245.3(OGDHL):c.1862-2A>GLikely pathogenic
Yoon-Bellen neurodevelopmental syndrome
β˜…β˜†β˜†β˜†2024
NM_018245.3(OGDHL):c.895A>G (p.Arg299Gly)Likely pathogenic
Yoon-Bellen neurodevelopmental syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 299
NM_018245.3(OGDHL):c.2140+1G>ALikely pathogenic
Yoon-Bellen neurodevelopmental syndrome
β˜…β˜†β˜†β˜†2023
NM_018245.3(OGDHL):c.2333C>T (p.Ser778Leu)Likely pathogenic
Abnormal brain morphology|Yoon-Bellen neurodevelopmental syndrome
β˜…β˜†β˜†β˜†β†’ Residue 778
NM_018245.3(OGDHL):c.2018G>A (p.Arg673Gln)Pathogenic
Yoon-Bellen neurodevelopmental syndrome
β˜†β˜†β˜†β˜†2022β†’ Residue 673
NM_018245.3(OGDHL):c.1464T>C (p.Val488=)Pathogenic
Yoon-Bellen neurodevelopmental syndrome
β˜†β˜†β˜†β˜†2022β†’ Residue 488
View on ClinVar β†—
Related Genes
KGD4Shared pathway100%PDHBProtein interaction100%BCKDHAProtein interaction100%BCKDHBProtein interaction100%DBTProtein interaction100%FHProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
12%
Heart
6%
Ovary
2%
Bone Marrow
0%
Lung
0%
Gene Interaction Network
Click a node to explore
OGDHLKGD4PDHBBCKDHABCKDHBDBTFH
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9ULD0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.58–0.85]
RankingsWhere OGDHL stands among ~20K protein-coding genes
  • #9,628of 20,598
    Most Researched44
  • #3,101of 5,498
    Most Pathogenic Variants8
  • #7,329of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedOGDHL
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
OGDHL silencing promotes hepatocellular carcinoma by reprogramming glutamine metabolism.
PMID: 31899205
J Hepatol Β· 2020
1.00
2
Deficiency in SLC25A15, a hypoxia-responsive gene, promotes hepatocellular carcinoma by reprogramming glutamine metabolism.
PMID: 38450598
J Hepatol Β· 2024
0.90
3
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
PMID: 38031187
Genome Med Β· 2023
0.80
4
Oxoglutarate dehydrogenase-like inhibits the progression of hepatocellular carcinoma by inducing DNA damage through non-canonical function.
PMID: 37419985
Cell Death Differ Β· 2023
0.70
5
The m6A modification-mediated OGDHL exerts a tumor suppressor role in ccRCC by downregulating FASN to inhibit lipid synthesis and ERK signaling.
PMID: 37626050
Cell Death Dis Β· 2023
0.60