Gene Symbol | RCAN1 |
Entrez Gene ID | 1827 |
Full Name | regulator of calcineurin 1 |
Synonyms | ADAPT78,CSP1,DSC1,DSCR1,MCIP1,RCN1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]. |
Disorder MIM: |