Search by BoMiProt ID - Bomi6696

Primary Information

BoMiProt ID Bomi6696
Protein Name L-2-hydroxyglutarate dehydrogenase, mitochondrial/Duranin
Organism Bos taurus
Uniprot IDA7MBI3
Milk Fractionwhey
Ref Sequence ID NP_001094560.1
Aminoacid Length 463
Molecular Weight 51022
FASTA Sequence Download
Gene Name L2HGDH
Gene ID 514230
Protein Existence Status Reviewed

Secondary Information

Protein Function is expressed in multiple tissues, with the highest expression in the brain, followed by testis and muscle.It catalyses the biochemical reaction converting (S)-2-hydroxyglutarate to 2-oxoglutarate.Role in oxidative stress and energy metabolism.
Biochemical Properties catalyzes the conversion of L-2-hydroxyglutaric acid to 2-ketoglutarate (2KG) and is located in mitochondria,bound to the membrane.(S)-2-hydroxyglutarate + A = 2-oxoglutarate + AH2.Utilizes FAD as cofactor
PTMs Acetylation
Site(s) of PTM(s)

N-glycosylation, O-glycosylation,
Predicted Disorder Regions NA
DisProt Annotation
TM Helix Prediction no TM helices
Additional Comments L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, neurometabolic disorder with an autosomal recessive mode of inheritance due to mutation of this gene.
Bibliography 1.Steenweg, M. E., Jakobs, C., Errami, A., van Dooren, S. J., Adeva Bartolomé, M. T., Aerssens, P., ... & Salomons, G. S. (2010). An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study. Human mutation, 31(4), 380-390. 2.Brinkley, G., Nam, H., Shim, E., Kirkman, R., Kundu, A., Karki, S., Heidarian, Y., Tennessen, J. M., Liu, J., Locasale, J. W., Guo, T., Wei, S., Gordetsky, J., Johnson-Pais, T. L., Absher, D., Rakheja, D., Challa, A. K., & Sudarshan, S. (2020). Teleological role of L-2-hydroxyglutarate dehydrogenase in the kidney. Disease models & mechanisms, 13(11), dmm045898.