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dsc1

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Official Full Name
regulator of calcineurin 1
Background
The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Three transcript variants encoding three different isoforms have been found for this gene.
Synonyms
RCAN1; regulator of calcineurin 1; Down syndrome critical region gene 1 , DSCR1; calcipressin-1; Adapt 78; Adapt78; Calcipressin 1; Calcium and oxidant inducible mRNA; CSP 1; CSP1; Down syndrome candidate region 1; Down syndrome critical region gene 1; Down syndrome critical region protein 1; DSC 1; DSC1; DSCR 1; DSCR1; MCIP 1; MCIP1; Modulatory calcineurin interacting protein 1; Myocyte enriched calcineurin interacting protein 1; Myocyte-enriched calcineurin-interacting protein 1; Near DSCR proline rich protein; RCAN1_HUMAN; RCN 1; RCN1; OTTHUMP00000108619; OTTHUMP00000108620; OTTHUMP00000108621; OTTHUMP00000108622; OTTHUMP00000214669; OTTHUMP00000214670; near DSCR proline-rich protein; calcium and oxidant-inducible mRNA; Down syndrome critical regi; modulatory calcineurin-interacting protein 1