OGDHL Chromosome 10
Oxoglutarate dehydrogenase L
Upload your DNA to see your personal genotypes for variants in OGDHL.
What This Gene Does
The protein encoded by this gene is similar to oxoglutarate dehydrogenase (OGDH) of the OGDH complex, which degrades glucose and glutamate. This gene encodes several isoforms, including some that appear to localize to mitochondria. The encoded protein down-regulates the AKT signaling cascade and can suppress the growth of cervical cancer cells. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"Oxoglutarate dehydrogenase family|Oxoglutarate dehydrogenase complex subunits"
Locus Type
gene with protein product
Location
10q11.23
Ensembl
ENSG00000197444
Associated Conditions (4)
Inborn genetic diseases
Yoon-Bellen neurodevelopmental syndrome
Abnormal brain morphology
Depression
Key Variants
RS139867430
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142622803
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751643938
Conflicting classifications of pathogenicity
Inborn genetic diseases, Yoon-Bellen neurodevelopmental syndrome, Inborn genetic diseases
Health Risk
RS1841583771
Likely pathogenic
Yoon-Bellen neurodevelopmental syndrome, Yoon-Bellen neurodevelopmental syndrome
Health Risk
RS2538989014
Likely pathogenic
Yoon-Bellen neurodevelopmental syndrome, Yoon-Bellen neurodevelopmental syndrome
Health Risk
RS773888308
Likely pathogenic
Abnormal brain morphology, Yoon-Bellen neurodevelopmental syndrome, Abnormal brain morphology
Health Risk
RS924975413
Likely pathogenic
Yoon-Bellen neurodevelopmental syndrome, Yoon-Bellen neurodevelopmental syndrome
Health Risk
RS1462948301
Pathogenic
Yoon-Bellen neurodevelopmental syndrome, Yoon-Bellen neurodevelopmental syndrome
Health Risk
RS2133028735
Pathogenic
Yoon-Bellen neurodevelopmental syndrome, Yoon-Bellen neurodevelopmental syndrome
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139867430 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142622803 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751643938 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Yoon-Bellen neurodevelopmental syndrome, Inborn genetic diseases |
| RS1841583771 | Health Risk | Likely pathogenic | Yoon-Bellen neurodevelopmental syndrome, Yoon-Bellen neurodevelopmental syndrome |
| RS2538989014 | Health Risk | Likely pathogenic | Yoon-Bellen neurodevelopmental syndrome, Yoon-Bellen neurodevelopmental syndrome |
| RS773888308 | Health Risk | Likely pathogenic | Abnormal brain morphology, Yoon-Bellen neurodevelopmental syndrome, Abnormal brain morphology |
| RS924975413 | Health Risk | Likely pathogenic | Yoon-Bellen neurodevelopmental syndrome, Yoon-Bellen neurodevelopmental syndrome |
| RS1462948301 | Health Risk | Pathogenic | Yoon-Bellen neurodevelopmental syndrome, Yoon-Bellen neurodevelopmental syndrome |
| RS2133028735 | Health Risk | Pathogenic | Yoon-Bellen neurodevelopmental syndrome, Yoon-Bellen neurodevelopmental syndrome |
| RS2293239 | Trait | Affects | Depression, Depression |