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