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RCAN1 / DSCR1 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. Alternative splicing results in multiple transcript variants.
Gene Name: | regulator of calcineurin 1 |
Synonyms: | RCAN1, ADAPT78, DSCR1, MCIP1, Regulator of calcineurin 1, Calcipressin-1, CSP1, Near DSCR proline-rich protein |
Target Sequences: | NM_004414 NP_004405.3 P53805 |
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