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RCAN1

RCAN1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the RCAN1 gene?

The official name of this gene is “regulator of calcineurin 1.”

RCAN1 is the gene's official symbol. The RCAN1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the RCAN1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development.

How are changes in the RCAN1 gene related to health conditions?

Genetics Home Reference provides information about rheumatoid arthritis, which is associated with changes in the RCAN1 gene.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic

Where is the RCAN1 gene located?

Cytogenetic Location: 21q22.12

Molecular Location on chromosome 21: base pairs 34,516,441 to 34,615,141

The RCAN1 gene is located on the long (q) arm of chromosome 21 at position 22.12.

The RCAN1 gene is located on the long (q) arm of chromosome 21 at position 22.12.

More precisely, the RCAN1 gene is located from base pair 34,516,441 to base pair 34,615,141 on chromosome 21.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about RCAN1?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the RCAN1 gene or gene products?

  • ADAPT78
  • CSP1
  • DSC1
  • DSCR1
  • MCIP1
  • RCN1

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding RCAN1?

alternative splicing ; catalytic ; central nervous system ; chronic ; domain ; gene ; nervous system ; neurofibrillary tangles ; phenotype ; protein ; splicing ; syndrome ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: October 20, 2014