OGDHL
Function
2-oxoglutarate dehydrogenase (E1-like) component of the 2-oxoglutarate dehydrogenase multienzyme complex (OGDHC) which mediates the decarboxylation of alpha-ketoglutarate in the tricarboxylic acid cycle. The OGDHC complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2) while reducing NAD(+) to NADH (By similarity). The OGDHC complex is mainly active in the mitochondrion (By similarity). Involved in the inhibition of cell proliferation and in apoptosis (PubMed:23152800, PubMed:31175094).
Involvement in disease
Yoon-Bellen neurodevelopmental syndrome
YOBELN
An autosomal recessive disorder characterized by global developmental delay, and variably impaired intellectual development. Additional variable features may include hypotonia, spasticity, ataxia, hearing loss, visual problems, seizures, and non-specific anomalies on brain imaging.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the alpha-ketoglutarate dehydrogenase family.
Tissue Specificity
Expressed in the brain and the liver.
Cellular localization
- Mitochondrion matrix
Alternative names
KIAA1290, OGDHL, 2-oxoglutarate dehydrogenase complex component E1-like, Alpha-ketoglutarate dehydrogenase-like, OGDC-E1-like