Primary Information
BoMiProt ID	Bomi6696
Protein Name	L-2-hydroxyglutarate dehydrogenase, mitochondrial/Duranin
Organism	Bos taurus
Uniprot ID	A7MBI3
Milk Fraction	whey
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, Phosphorylation	NA
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. https://doi.org/10.1242/dmm.045898