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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 Alpha-Hydroxyglutaric acid, 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 Cofactor (biochemistry), co-factor: (S)-2-hydroxyglutarate + acceptor = 2-oxoglutarate + reduced acceptor. L-2-hydrox ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
L-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-hydroxygl ... [...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 * Hydroxyacid-oxoacid ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
D2HGDH
D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ''D2HGDH'' gene. This gene encodes D-2hydroxyglutarate dehydrogenase, 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 In enzymology, a hydroxyacid-oxoacid transhydrogenase () is an enzyme that catalyzes the chemical reaction :(S)-3-hydroxybutanoate + 2-oxoglutarate \rightleftharpoons acetoacetate + (R)-2-hydroxyglutarate Thus, the two substrates of this enzym ... References Further reading< ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alpha-Hydroxyglutaric Acid
α-Hydroxyglutaric acid (2-hydroxyglutaric acid) is an alpha hydroxy acid form of glutaric acid. In biology In humans the compound is formed by a hydroxyacid-oxoacid transhydrogenase whereas in bacteria is formed by a 2-hydroxyglutarate synthase. The compound can be converted to α-ketoglutaric acid through the action of a 2-hydroxyglutarate dehydrogenase which, in humans, are two enzymes called D2HGDH and L2HGDH. Deficiency in either of these two enzymes lead to a disease known as 2-hydroxyglutaric aciduria. D-2-hydroxyglutarate Mutations in isocitrate dehydrogenase (IDH1 and IDH2), which frequently occur in glioma and AML, produce D-2-hydroxyglutarate from alpha-ketoglutarate. D-2-hydroxyglutarate accumulates to very high concentrations which inhibits the function of enzymes that are dependent on alpha-ketoglutarate, including histone lysine demethylases. This leads to a hypermethylated state of DNA and histones, which results in different gene expression that can activa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metabolite Damage And Its Repair Or Pre-emption
Metabolite damage can occur through enzyme promiscuity or spontaneous chemical reactions. Many metabolites are Chemical reaction, chemically reactive and unstable and can react with other cell components or undergo unwanted modifications. Enzymatically or chemically damaged metabolites are always useless and often toxic. To prevent toxicity that can occur from the accumulation of damaged metabolites, organisms have damage-control systems that: # Reconvert damaged metabolites to their original, undamaged form (damage repair) # Convert a potentially harmful metabolite to a benign one (damage pre-emption) # Prevent damage from happening by limiting the build-up of reactive, but non-damaged metabolites that can lead to harmful products (directed overflow) Damage-control systems can involve one or more specific enzymes. Types of damage Similarly to DNA and proteins, metabolites are prone to damage, which can occur chemically or through enzyme promiscuity. Much less is known about metabo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. Almost all metabolic processes in the 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 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 are catalytic RNA molecules, called ribozymes. Enzymes' specificity comes from their unique three-dimensional structures. Like all catalysts, enzymes increase the reaction ra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blood Plasma
Blood plasma is a light amber-colored liquid component of blood in which blood cells are absent, but contains proteins and other constituents of whole blood in suspension. It makes up about 55% of the body's total blood volume. It is the intravascular part of extracellular fluid (all body fluid outside cells). It is mostly water (up to 95% by volume), and contains important dissolved proteins (6–8%; e.g., serum albumins, globulins, and fibrinogen), glucose, clotting factors, electrolytes (, , , , , etc.), hormones, carbon dioxide (plasma being the main medium for excretory product transportation), and oxygen. It plays a vital role in an intravascular osmotic effect that keeps electrolyte concentration balanced and protects the body from infection and other blood-related disorders. Blood plasma is separated from the blood by spinning a vessel of fresh blood containing an anticoagulant in a centrifuge until the blood cells fall to the bottom of the tube. The blood plasma is t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KLK10
Kallikrein-10 is a protein that in humans is encoded by the ''KLK10'' gene. Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. References Further reading * * * * * * * * * * * * * * * * * External links * The MEROPS MEROPS is an online database for peptidases (also known as proteases, proteinases and proteolytic enzymes) and their inhibitors. The classification scheme for peptidases was published by Rawlings & Barrett in 1993, and that for protein inhibitor ... online database fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsy
Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. Epileptic seizures can vary from brief and nearly undetectable periods to long periods of vigorous shaking due to abnormal electrical activity in the brain. These episodes can result in physical injuries, either directly such as broken bones or through causing accidents. In epilepsy, seizures tend to recur and may have no immediate underlying cause. Isolated seizures that are provoked by a specific cause such as poisoning are not deemed to represent epilepsy. People with epilepsy may be treated differently in various areas of the world and experience varying degrees of social stigma due to the alarming nature of their symptoms. The underlying mechanism of epileptic seizures is excessive and abnormal neuronal activity in the cortex of the brain which can be observed in the electroencephalogram (EEG) of an individual. The reason this occurs in most cases of epilepsy is u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Macrocephaly
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. Those with benign or familial macrocephaly are considered to have megalencephaly. Causes Many people with abnormally large heads or large skulls are healthy, but macrocephaly may be pathological. Pathologic macrocephaly may be due to megalencephaly (enlarged brain), hydrocephalus (abnormally increased cerebrospinal fluid), cranial hyperostosis (bone overgrowth), and other conditions. Pathologic macrocephaly is called "syndromic", when it is associated with any other noteworthy condition, and "nonsyndromic" otherwise. Pathologic macrocephaly may be caused by congenital anatomic abnormalities, genetic conditions, or by environmental events. Many genetic conditions are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebellar Ataxia
Cerebellar ataxia is a form of ataxia originating in the cerebellum. Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias. Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate balance, gait, extremity and eye movements. Lesions to the cerebellum can cause dyssynergia, dysmetria, dysdiadochokinesia, dysarthria and ataxia of stance and gait. Deficits are observed with movements on the same side of the body as the lesion (ipsilateral). Clinicians often use visual observation of people performing motor tasks in order to look for signs of ataxia. Signs and symptoms Damage to the cerebellum causes impairment in motor skills and can cause nystagmus. Almost a third of people with isolated, late onset cerebellar ataxia go on to develop multiple system atrophy. The cerebellum's role has been observed as not purely motor. It is combined with intellect, emotion and planning. Cerebellar defi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Psychomotor Retardation , a series of unintentional and purposeless motions that stem from mental tension and anxiety of an individual
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Psychomotor may refer to: * Psychomotor learning, the relationship between cognitive functions and physical movement * Psychomotor retardation, a slowing-down of thought and a reduction of physical movements in an individual * Psychomotor agitation Psychomotor agitation is a symptom in various disorders and health conditions. It is characterized by unintentional and purposeless motions and restlessness, often but not always accompanied by emotional distress. Typical manifestations include ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
