oxoglutarate dehydrogenase L

Summary
Gene Symbol
  • OGDHL
Aliases
  • FLJ10851
Organism
Homo sapiens (human)
External Links
NCBI Gene
55753
HGNC
25590
KEGG Gene ID
hsa:55753
PubChem
55753
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Calcium
  • Disease variant
  • Glycolysis
  • Intellectual disability
  • Metal-binding
  • Mitochondrion
  • Oxidoreductase
  • Reference proteome
  • Thiamine pyrophosphate
  • Transit peptide
Proteins
Displaying 1 entry
UniProt Protein Name
Q9ULD0
  • 2-oxoglutarate dehydrogenase complex component E1-like
  • Alpha-ketoglutarate dehydrogenase-like
Gene Ontology (GO)
Displaying all 3 entries
GO Term Evidence Code PMID
2-oxoglutarate metabolic process
glycolytic process
tricarboxylic acid cycle
GO Hierarchy
Human Protein Atlas
ENSG00000197444

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K00164
Name
2-oxoglutarate dehydrogenase E1 component [EC:1.2.4.2]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 29 in total
DO ID Disease Name Source
DOID:0070468 Yoon-Bellen neurodevelopmental syndrome
DOID:0080199 colorectal carcinoma
DOID:0080348 Alzheimer's disease 1
DOID:0081326 oxoglutarate dehydrogenase deficiency
DOID:0110035 Alzheimer's disease 2
DOID:0110037 Alzheimer's disease 5
DOID:0110038 Alzheimer's disease 6
DOID:0110039 Alzheimer's disease 7
DOID:0110041 Alzheimer's disease 8
DOID:0110043 Alzheimer's disease 10
The Human Phenotype Ontology
Displaying entries 1 - 10 of 31 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000218 High palate
HP:0000252 Microcephaly
HP:0000338 Hypomimic face
HP:0000365 Hearing impairment
HP:0000494 Downslanted palpebral fissures
HP:0000505 Visual impairment
HP:0000639 Nystagmus
HP:0000648 Optic atrophy
HP:0001251 Ataxia
Displaying 1 entry
Disease ID Disease Name
OMIM:619701
  • Yoon-Bellen neurodevelopmental syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024