OGDHL
Oxoglutarate Dehydrogenase L
Gene Information Card
| Symbol | OGDHL |
|---|---|
| Full Name | Oxoglutarate Dehydrogenase L |
| Gene Type | Protein coding |
| Chromosomal Location | 10q11.23 |
| NCBI Gene ID | 55753 ncbi.nlm.nih.gov/gene/55753 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q9ULD0 |
| OMIM ID | 617513 |
| HGNC ID | 25590 |
| Aliases | OGDH-L, OGDH2, OGDHD |
Description
OGDHL encodes the E1 subunit of the 2-oxoglutarate dehydrogenase complex, a key enzyme in the tricarboxylic acid (TCA) cycle that catalyzes the conversion of 2-oxoglutarate to succinyl-CoA. This mitochondrial protein is essential for energy metabolism and is implicated in metabolic and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| OGDHL deficiency (combined oxoglutarate dehydrogenase deficiency) | Loss-of-function mutations impair TCA cycle flux, leading to energy deficit and accumulation of 2-oxoglutarate | ClinVar, OMIM |
| Neurodevelopmental disorder with hypotonia and seizures | Biallelic OGDHL variants disrupt mitochondrial metabolism, causing neurological symptoms | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.5 | Medium |
| Brain | 6.2 | Low |
| Skeletal Muscle | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.5 | Hepatocellular carcinoma cell line |
| HEK293 | 8.2 | Embryonic kidney cells |
| SH-SY5Y | 5.0 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | <0.01% | Loss of function; premature truncation |
| c.1486G>A (p.Gly496Arg) | Missense | <0.01% | Impaired enzyme activity |
| c.2023_2024del (p.Leu675fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported OGDHL mutations are loss-of-function, reducing or abolishing 2-oxoglutarate dehydrogenase activity.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
Not established; recessive inheritance pattern observed.
View complete mutation data：
Gene Ontology (GO)
| • oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591) | • mitochondrion (GO:0005739) |
| • tricarboxylic acid cycle (GO:0006099) | • oxidoreductase activity (GO:0016491) |
Pathways
• TCA cycle (KEGG: hsa00020)
• 2-Oxoglutarate dehydrogenase complex (Reactome: R-HSA-71406)
Protein Summary
OGDHL is a 1020-amino acid mitochondrial protein that functions as the E1 component of the 2-oxoglutarate dehydrogenase complex. It catalyzes the decarboxylation of 2-oxoglutarate to succinyl-CoA, coupling the TCA cycle to energy production. Mutations in OGDHL cause a rare metabolic disorder with neurological involvement.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OGDHL Knockout HEK293 Cell Line | EDJ-KQ14554 | Human | 55753 | Details Get a Quote |
| OGDHL Knockout HCT 116 Cell Line | EDJ-KQ44847 | Human | 55753 | Details Get a Quote |
| OGDHL Knockout HeLa Cell Line | EDJ-KQ56627 | Human | 55753 | Details Get a Quote |
| OGDHL Knockout A-549 Cell Line | EDJ-KQ65127 | Human | 55753 | Details Get a Quote |
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