RCAN1
LOCUS ID1827
GENE_SYMBOLRCAN1
GENE NAMEregulator of calcineurin 1
SYNONYMNSCSP1, DSC1, RCN1, DSCR1, MCIP1, ADAPT78
CHROMOSOME21
HOMOLOGENE ID3251
microRNAsNANA
GENE 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. Altertive splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Stable transfection of RCAN1.4 in Mes-13 mesangial cells upregulated several factors relevant to ECM production and degradation. These suggested that RCAN1.4 might act as a link between CaN activation and ECM turnover in diabetic nephropathy.22128263