Functional Analysis of the Human D2 Dopamine Receptor Missense Variants
نویسندگان
چکیده
منابع مشابه
Genomic analysis and functional expression of canine dopamine D2 receptor.
Dopamine D2 receptor (DRD2) is one of the five dopamine receptors with seven transmembrane domains that are coupled to the G protein. We have cloned and characterized the genomic and cDNA sequences of the canine DRD2 gene, which are 12.7 and 2.7 kb in size, respectively. The genomic DNA is composed of seven exons and six introns, encoding a 443 amino acid protein with 95% amino acid identity to...
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The main purpose of the present investigation is the study of therapeutically effect of Zotepine in schizophrenia disease treatment. In first step, the molecular structure of the said compound is optimized using density functional theory (DFT) technique by B3LYP functional method at 6-311++G(d,p) level of theory. Then the electronic properties of the title molecule are calculated using frontier...
متن کاملFunctional variants of the dopamine receptor D2 gene modulate prefronto-striatal phenotypes in schizophrenia.
Dopamine D2 receptor signalling is strongly implicated in the aetiology of schizophrenia. We have recently characterized the function of three DRD2 SNPs: rs12364283 in the promoter affecting total D2 mRNA expression; rs2283265 and rs1076560, respectively in introns 5 and 6, shifting mRNA splicing to two functionally distinct isoforms, the short form of D2 (D2S) and the long form (D2L). These tw...
متن کاملDopamine receptor D2
Dopamine receptor D2, also known asD2R, is a protein that, in humans, is encoded by the DRD2 gene.The dopamine D2 receptor was discovered in 1975 by Philip Seeman who had named it as the antipsychotic/dopamine receptor [1] The dopamine D2 receptor is the main receptor for all antipsychotic drugs. Any drug that does not interfere with dopamine action at the D2 receptor does not have an antipsych...
متن کاملAssociation of a missense change in the D2 dopamine receptor with myoclonus dystonia.
Hereditary autosomal dominant myoclonus dystonia (MD) is a movement disorder characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Although various large families with MD have been described, no positive linkage has been found to a chromosomal location. We report a family with eight members with MD. Linkage analysis identified a 23-centimorgan r...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 1996
ISSN: 0021-9258
DOI: 10.1074/jbc.271.42.26013