Aliases for RCAN1 Gene
External Ids for RCAN1 Gene
Previous HGNC Symbols for RCAN1 Gene
Previous GeneCards Identifiers for RCAN1 Gene
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]
GeneCards Summary for RCAN1 Gene
RCAN1 (Regulator Of Calcineurin 1) is a Protein Coding gene. Diseases associated with RCAN1 include Down Syndrome and Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2. Among its related pathways are Notch-mediated HES/HEY network and Thyroid hormone signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and calcium-dependent protein serine/threonine phosphatase regulator activity. An important paralog of this gene is RCAN2.
UniProtKB/Swiss-Prot Summary for RCAN1 Gene
Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A (PubMed:12809556). Could play a role during central nervous system development (By similarity).