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Coenzyme Q10 Deficiency
Coenzyme Q10 deficiency is a deficiency of coenzyme Q10. It can be associated with '' COQ2'', '' APTX'', ''PDSS2 Decaprenyl-diphosphate synthase subunit 2 (PDSS2) is a protein that in humans is encoded by the ''PDSS2'' gene. Function The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or Coenzyme Q10, ubiqu ...'', '' PDSS1'', '' CABC1'', and '' COQ9''. Some forms may be more treatable than other mitochondrial diseases. References External links 8th Conference of the International Coenzyme Q10 Association Mitochondrial diseases TCA and ETC metabolism disorders {{endocrine-disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coenzyme Q10
Coenzyme Q, also known as ubiquinone and marketed as CoQ10, is a coenzyme family that is ubiquitous in animals and most bacteria (hence the name ubiquinone). In humans, the most common form is coenzyme Q10 or ubiquinone-10. It is a 1,4-benzoquinone, where Q refers to the quinone chemical group and 10 refers to the number of isoprenyl chemical subunits in its tail. In natural ubiquinones, the number can be anywhere from 6 to 10. This family of fat-soluble substances, which resemble vitamins, is present in all respiring eukaryotic cells, primarily in the mitochondria. It is a component of the electron transport chain and participates in aerobic cellular respiration, which generates energy in the form of ATP. Ninety-five percent of the human body's energy is generated this way. Organs with the highest energy requirements—such as the heart, liver, and kidney—have the highest CoQ10 concentrations. There are three redox states of CoQ: fully oxidized (ubiquinone), semiquin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COQ2
Para-hydroxybenzoate—polyprenyltransferase, mitochondrial is an enzyme that in humans is encoded by the ''COQ2'' gene. CoQ (ubiquinone) serves as a redox Redox (reduction–oxidation, , ) is a type of chemical reaction in which the oxidation states of substrate (chemistry), substrate change. Oxidation is the loss of Electron, electrons or an increase in the oxidation state, while reduction ... carrier in the mitochondrial respiratory chain and is a lipid-soluble antioxidant. COQ2, or parahydroxybenzoate-polyprenyltransferase (EC 2.5.1.39), catalyzes one of the final reactions in the biosynthesis of CoQ, the prenylation of parahydroxybenzoate with an all-trans polyprenyl group (Forsgren et al., 2004). upplied by OMIMref name="entrez" /> References External links * Further reading * * * * * * * * * * * {{gene-4-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
APTX
aptX (''apt'' stands for ''audio processing technology'') is a family of proprietary audio codec compression algorithms owned by Qualcomm, with a heavy emphasis on wireless audio applications. History The original aptX algorithm was developed in the 1980s by Dr. Stephen Smyth as part of his Ph.D. research at Queen's University Belfast School of Electronics, Electrical Engineering and Computer Science; its design is based on time domain ADPCM principles without psychoacoustic auditory masking techniques. aptX audio coding was first introduced to the commercial market as a semiconductor product, a custom programmed DSP integrated circuit with part name APTX100ED, which was initially adopted by broadcast automation equipment manufacturers who required a means to store CD-quality audio on a computer hard disk drive for automatic playout during a radio show, for example, hence replacing the task of the disc jockey. The company was bought by Solid State Logic ca. 1988, and became pa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PDSS2
Decaprenyl-diphosphate synthase subunit 2 (PDSS2) is a protein that in humans is encoded by the ''PDSS2'' gene. Function The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or Coenzyme Q10, ubiquinone, one of the key elements in the electron transport chain, respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Clinical significance It may be associated with Coenzyme Q10 deficiency. See also * PDSS1 References Further reading * * * * * * * * * * * * * * EC 2.5.1 {{gene-6-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PDSS1
Decaprenyl-diphosphate synthase subunit 1 is an enzyme that in humans is encoded by the ''PDSS1'' gene. The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone Coenzyme Q, also known as ubiquinone and marketed as CoQ10, is a coenzyme family that is ubiquitous in animals and most bacteria (hence the name ubiquinone). In humans, the most common form is coenzyme Q10 or ubiquinone-10. It is a 1,4-benzoq ..., one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. References Further reading * * * * * * * * * * {{gene-10-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CABC1
aarF domain containing kinase 3 is a protein that in humans is encoded by the ''ADCK3'' gene. This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to code for multiple proteins. In this process, particular exons of a gene may be i ... transcript variants have been found; however, their full-length nature has not been determined. References External links * Further reading * * * * * * * * * * {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COQ9
Ubiquinone biosynthesis protein COQ9, mitochondrial, also known as coenzyme Q9 homolog (COQ9), is a protein that in humans is encoded by the ''COQ9'' gene. Function This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency. Clinical significance It may be associated with Coenzyme Q10 deficiency Coenzyme Q10 deficiency is a deficiency of coenzyme Q10. It can be associated with '' COQ2'', '' APTX'', ''PDSS2 Decaprenyl-diphosphate synthase subunit 2 (PDSS2) is a protein that in humans is encoded by the ''PDSS2'' gene. Function The p .... References External links * Further reading * * * * * * * * * * * Genes mutated in mice {{gene-16-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondrial Disease
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. A subclass of these diseases that have neuromuscular symptoms are known as mitochondrial myopathies. Types Examples of mitochondrial diseases include: * Mitochondrial myopathy * Diabetes mellitus and deafness (DAD) ** this combination at an early age can be due to mitochondrial disease ** Diabetes mellitus and deafness can be found together for other reasons * Leber's hereditary optic neuropathy (LHON) ** visual loss beginning in young adulthood ** eye disorder characterized by progressive loss of centra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
