GNAO1
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GNAO1
Guanine nucleotide-binding protein G(o) subunit alpha is a protein that in humans is encoded by the ''GNAO1'' gene. Mutations in this gene have been shown to cause epileptic encephalopathy. Interactions GNAO1 has been shown to interact with: * RGS5, * RGS19, * RGS20, and * RIC8A Resistance to inhibitors of cholinesterase-8A (Ric-8A), also known as Synembryn-A, is a protein that in humans is encoded by the ''RIC8A'' gene. Interactions RIC8A has been shown to interact with GNAO1, GNA13, GNAQ, GNAS complex locus, GNAI2, ... References Further reading

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RGS5
Regulator of G-protein signaling 5 is a protein that in humans is encoded by the ''RGS5'' gene. The regulator of G protein signaling (RGS) proteins are signal transduction molecules that have structural homology to SST2 of Saccharomyces cerevisiae and EGL-10 of Caenorhabditis elegans. Multiple genes homologous to SST2 are present in higher eukaryotes. RGS proteins are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators. Interactions RGS5 has been shown to interact with GNAO1, GNAI2 Guanine nucleotide-binding protein G(i), alpha-2 subunit is a protein that in humans is encoded by the ''GNAI2'' gene. Interactions GNAI2 has been shown to interact with: * EYA2, * GPSM2, * Interleukin 8 receptor, alpha, * MDFI, * RGS5, ... and GNAI3. References Further reading

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RGS19
Regulator of G-protein signaling 19 is a protein that in humans is encoded by the ''RGS19'' gene. G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G-protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase-activating protein that functions to down-regulate Galpha i/Galpha q-linked signaling. Interactions RGS19 has been shown to interact with GNAO1, GIPC1, OSTM1, GNAI1, GNAI3 and GNAZ Guanine nucleotide-binding protein G(z) subunit alpha is a protein that in humans is encoded by the ''GNAZ'' gene. Function The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis to .... References Further reading * * * * * * * * * * * * * * * * * * * * * * External links

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RGS20
Regulator of G-protein signaling 20 is a protein that in humans is encoded by the ''RGS20'' gene. Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins are GTPase-activating proteins for Gi (see GNAI1; MIM 139310) and Gq (see GNAQ; MIM 600998) class G-alpha proteins. They accelerate transit through the cycle of GTP binding and hydrolysis and thereby accelerate signaling kinetics and termination. upplied by OMIMref name="entrez"> In melanocytic cells RGS20 gene expression may be regulated by MITF. Interactions RGS20 has been shown to interact with GNAO1 and GNAZ Guanine nucleotide-binding protein G(z) subunit alpha is a protein that in humans is encoded by the ''GNAZ'' gene. Function The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis tox .... References Further reading

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Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid ...
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Gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and 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 noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as ...
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Encephalopathy
Encephalopathy (; from grc, ἐνκέφαλος "brain" + πάθος "suffering") means any disorder or disease of the brain, especially chronic degenerative conditions. In modern usage, encephalopathy does not refer to a single disease, but rather to a syndrome of overall brain dysfunction; this syndrome has many possible organic and inorganic causes. Signs and symptoms The hallmark of encephalopathy is an altered mental state or delirium. Characteristic of the altered mental state is impairment of the cognition, attention, orientation, sleep–wake cycle and consciousness. An altered state of consciousness may range from failure of selective attention to drowsiness. Hypervigilance may be present; with or without: cognitive deficits, headache, epileptic seizures, myoclonus (involuntary twitching of a muscle or group of muscles) or asterixis ("flapping tremor" of the hand when wrist is extended). Depending on the type and severity of encephalopathy, common neurological symp ...
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