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RCAN1

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.
Protein class

Human disease related genes

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Glandular and luminal cells, Endometrial ciliated cells, Breast glandular cells)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Group enriched (SK-MEL-30, WM-115)

Interaction

Interacts with RAF1 (PubMed:15935327). Interacts with PPP3CA and PPP3R1 (PubMed:12809556).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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