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D2HGDH
D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ''D2HGDH'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei .... This gene encodes D-2hydroxyglutarate dehydrogenase is a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. See also * L2HGDH * 2-hydroxyglutarate synthase * 2-hydroxyglutarate dehydrogenase * Hydroxyacid-oxoacid transhydrogenase References Further read ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
2-Hydroxyglutaric Aciduria
2-hydroxyglutaric aciduria is a rare neurometabolic disorder characterized by the significantly elevated levels of hydroxyglutaric acid in one's urine. It is either autosomal recessive or autosomal dominant. Presentation The signs/symptoms of this condition are consistent with the following: * Intellectual disability, * Muscular hypotonia * Encephalitis * Seizures * Aphasia Cause Mutation in several genes can lead to different types of 2-hydroxyglutaric aciduria. For example, the D2HGDH and L2HGDH genes provide instructions for making enzymes that are found in mitochondria - in which these enzymes break down D-2-hydroxyglutarate and L-2-hydroxyglutarate, respectively, as a part of normal reaction series that generate energy for cell activities. Any mutations occur in either of these genes would interrupt the functional enzymes and allow both 2-hydroxyglutarates to accumulate in cells, which cause 2-hydroxyglutaric aciduria type I. Moreover, it is known that type II for L-2-hydr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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. Function This gene encodes L-2-hydroxyglutarate dehydrogenase, a flavin adenine dinucleotide (FAD)-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. L2HGDH codes for a protein that is 50 kDa in size. The L2HGDH protein contains a mitochondrial-targeting transit peptide and is localized to the mitochondrial inner membrane inside mitochondria inside the cell. The L2HGDH protein catalyzes the following reaction, and requires flavin adenine dinucleotide (FAD) as a co-factor: (S)-2-hydroxyglutarate + acceptor = 2-oxoglutarate + reduced acceptor. L-2-hydroxyglutarate is produced by promiscuous action o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
2-hydroxyglutarate Synthase
In enzymology, a 2-hydroxyglutarate synthase () is an enzyme that catalyzes the chemical reaction :propanoyl-CoA + H2O + glyoxylate \rightleftharpoons 2-hydroxyglutarate + CoA The 3 substrates of this enzyme are propanoyl-CoA, H2O, and glyoxylate, whereas its two products are 2-hydroxyglutarate and CoA. This enzyme belongs to the family of transferases, specifically those acyltransferases that convert acyl groups into alkyl groups on transfer. The systematic name of this enzyme class is propanoyl-CoA:glyoxylate C-propanoyltransferase (thioester-hydrolysing, 2-carboxyethyl-forming). Other names in common use include 2-hydroxyglutaratic synthetase, 2-hydroxyglutaric synthetase, alpha-hydroxyglutarate synthase, hydroxyglutarate synthase, and 2-hydroxyglutarate glyoxylate-lyase (CoA-propanoylating). This enzyme participates in c5-branched dibasic acid metabolism. See also * D2HGDH * L2HGDH * 2-hydroxyglutarate dehydrogenase * 2-Hydroxyglutaric aciduria 2-hydroxyglutaric a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecules known as product (chemistry), products. Almost all metabolism, metabolic processes in the cell (biology), cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme, pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts include Ribozyme, catalytic RNA molecules, also called ribozymes. They are sometimes descr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
2-hydroxyglutarate Dehydrogenase
2-hydroxyglutarage dehydrogenase may refer to the following: * L-2-hydroxyglutarate dehydrogenase In enzymology, an L-2-hydroxyglutarate dehydrogenase () is an enzyme that catalyzes the chemical reaction :(S)-2-hydroxyglutarate + acceptor \rightleftharpoons 2-oxoglutarate + reduced acceptor Thus, the two substrates of this enzyme are (S)-2 ..., an enzyme * D-2-hydroxyglutarate dehydrogenase, an enzyme {{Short pages monitor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
