OGDHL

Chr 10q11.23

oxoglutarate dehydrogenase L

Aliases:: FLJ10851
MANE:: ENST00000374103.9

OMIM: 617513 ↗NCBI: 55753 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

OGDHL · Q9ULD0

v62025-08-01

Predicted Aligned Error matrix for OGDHL — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.1/ 100

Very high

1,010 residues

Confidence breakdown

Very high(≥ 90)81%
Confident(70–90)11%
Low(50–70)2%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Yoon-Bellen neurodevelopmental syndrome
0.71
Abnormal brain morphology
0.27
cancer
0.25
stroke disorder
0.23
alcohol drinking
0.23
depressive disorder
0.19
hereditary disease
0.19
hepatocellular carcinoma
0.09
prostate carcinoma
0.09
nonpapillary renal cell carcinoma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

2-oxoglutarate dehydrogenase-like, mitochondrial

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)