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L2HGDH

Index L2HGDH

L-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the L2HGDH gene, also known as C14orf160, on chromosome 14. [1]

26 relations: Alpha-Hydroxyglutaric acid, Blood plasma, Cerebellar ataxia, Cerebrospinal fluid, Chromosome 14, Cofactor (biochemistry), D2HGDH, Dominance (genetics), Enzyme, Enzyme promiscuity, Epilepsy, Flavin adenine dinucleotide, Gene, Hydroxyacid-oxoacid transhydrogenase, Inner mitochondrial membrane, Intellectual disability, KLK10, Macrocephaly, Malate dehydrogenase, Metabolite damage, Mitochondrion, Psychomotor retardation, Signal peptide, 2-hydroxyglutarate dehydrogenase, 2-hydroxyglutarate synthase, 2-Hydroxyglutaric aciduria.

Alpha-Hydroxyglutaric acid

α-Hydroxyglutaric acid (2-hydroxyglutaric acid) is an alpha hydroxy acid form of glutaric acid.

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Blood plasma

Blood plasma is a yellowish coloured liquid component of blood that normally holds the blood cells in whole blood in suspension; this makes plasma the extracellular matrix of blood cells.

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Cerebellar ataxia

Cerebellar ataxia is a form of ataxia originating in the cerebellum.

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Cerebrospinal fluid

Cerebrospinal fluid (CSF) is a clear, colorless body fluid found in the brain and spinal cord.

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Chromosome 14

Chromosome 14 is one of the 23 pairs of chromosomes in humans.

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Cofactor (biochemistry)

A cofactor is a non-protein chemical compound or metallic ion that is required for an enzyme's activity.

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D2HGDH

D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the D2HGDH gene.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Enzyme

Enzymes are macromolecular biological catalysts.

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Enzyme promiscuity

Enzyme promiscuity is the ability of an enzyme to catalyse a fortuitous side reaction in addition to its main reaction.

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Epilepsy

Epilepsy is a group of neurological disorders characterized by epileptic seizures.

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Flavin adenine dinucleotide

In biochemistry, flavin adenine dinucleotide (FAD) is a redox cofactor, more specifically a prosthetic group of a protein, involved in several important enzymatic reactions in metabolism.

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Gene

In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.

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Hydroxyacid-oxoacid transhydrogenase

In enzymology, a hydroxyacid-oxoacid transhydrogenase is an enzyme that catalyzes the chemical reaction Thus, the two substrates of this enzyme are (S)-3-hydroxybutanoate and 2-oxoglutarate, whereas its two products are acetoacetate and (R)-2-hydroxyglutarate.

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Inner mitochondrial membrane

The inner mitochondrial membrane (IMM) is the mitochondrial membrane which separates the mitochondrial matrix from the intermembrane space.

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Intellectual disability

Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.

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KLK10

Kallikrein-10 is a protein that in humans is encoded by the KLK10 gene.

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Macrocephaly

Macrocephaly is a condition in which the head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium.

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Malate dehydrogenase

Malate dehydrogenase (MDH) is an enzyme that reversibly catalyzes the oxidation of malate to oxaloacetate using the reduction of NAD+ to NADH.

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Metabolite damage

Metabolite damage can occur through enzyme promiscuity or spontaneous chemical reactions.

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Mitochondrion

The mitochondrion (plural mitochondria) is a double-membrane-bound organelle found in most eukaryotic organisms.

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Psychomotor retardation

Psychomotor retardation (also known as "psychomotor impairment" or "motormental retardation" or "psychomotor slowing") involves a slowing-down of thought and a reduction of physical movements in an individual.

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Signal peptide

A signal peptide (sometimes referred to as signal sequence, targeting signal, localization signal, localization sequence, transit peptide, leader sequence or leader peptide) is a short peptide (usually 16-30 amino acids long) present at the N-terminus of the majority of newly synthesized proteins that are destined towards the secretory pathway.

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2-hydroxyglutarate dehydrogenase

2-hydroxyglutarage dehydrogenase may refer to.

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2-hydroxyglutarate synthase

In enzymology, a 2-hydroxyglutarate synthase is an enzyme that catalyzes the chemical reaction The 3 substrates of this enzyme are propanoyl-CoA, H2O, and glyoxylate, whereas its two products are 2-hydroxyglutarate and CoA.

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2-Hydroxyglutaric aciduria

2-hydroxyglutaric aciduria is a rare neurometabolic disorder characterized by the significantly elevated levels of hydroxyglutaric acid in ones urine.

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Redirects here:

L2HGDH (gene).

References

[1] https://en.wikipedia.org/wiki/L2HGDH

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