DSCR1
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Down syndrome critical region gene 1, also known as DSCR1, is a protein that in humans is encoded by the DSCR1 gene.[1]
Function
The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways of genetic transcription, possibly affecting central nervous system development. Three transcript variants encoding three different isoforms have been found for this gene.[1] In endothelial cells, VEGF stimulates RCAN1.4 expression which regulates gene expression, cell migration and tubular morphogenesis.[2]
Clinical significance
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's disease.[1][3]
It is suggested that the reason patients with Down's Syndrome are less predisposed to certain cancers is due to the impact of this gene of reducing blood supply to tumour cells.[4]
Interactions
DSCR1 has been shown to interact with Calcineurin.[5]
References
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Further reading
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