RCAN1
Sign in to saveAlso known as ADAPT78, CSP1, DSC1, DSCR1, MCIP1, RCN1, regulator of calcineurin 1
Down syndrome critical region gene 1, also known as DSCR1, is a protein that in humans is encoded by the RCAN1 gene.
Gene data
RCAN1- Name
- regulator of calcineurin 1
- Type
- protein-coding
- Position
- 34,513,142–34,615,323 (−)
- Aliases
- ADAPT78, CSP1, DSCR1, MCIP1
- Ensembl
- ENSG00000159200
- RefSeq RNA
- NM_001285389.2, NM_001285391.2, NM_001285392.2, NM_001285393.2, NM_001331016.2
- RefSeq protein
- NP_001272318.1, NP_001272320.2, NP_001272321.1, NP_001272322.1, NP_001317945.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
regulator of calcineurin 1
- Symbol
- RCAN1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 21:34,513,142-34,615,323
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~4 min read
Encyclopedic overview
11 sectionsContents
- Gene location and organization
- Function
- Structure
- Clinical significance
- Associated diseases
- Central nervous system
- Cancer
- Interactions
- See also
- References
- Further reading
Down syndrome critical region gene 1, also known as DSCR1, is a protein that in humans is encoded by the RCAN1 gene.
== Gene location and organization ==
Excerpted from Wikipedia’s “RCAN1” article, available under the CC BY-SA 4.0 licence.