• Down syndrome critical region gene 1, also known as DSCR1, is a protein that in humans is encoded by the RCAN1 gene. (wikipedia.org)
  • DSCR1 in human is located at the centromeric border of the DSCR and encodes an inhibitor of calcineurin/ NFAT (nuclear factor activated T cells) signalling. (wikipedia.org)
  • The regulator of calcineurin (RCAN) was first reported as a novel gene called DSCR1, encoded in a region termed the Down syndrome critical region (DSCR) of human chromosome 21. (molcells.org)
  • It is also proposed by epidemiological studies that DS patients are in greater risk of leukaemia, on the other hand they are at lower risk of cancer and other angiogenesis related diseases such as diabetic retinopathy and atherosclerosis, indicating that one or more trisomic genes on chromosome 21 is responsible for protecting DS patients against cancer, and this cancer defence could be a result of angiogenesis suppression. (wikipedia.org)
  • Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer's disease. (wikipedia.org)
  • In trisomy 21, the presence of an extra set of genes leads to overexpression of the involved genes, in all cells of the afflicted individuals, leading to increased production of certain products called proteins. (cdadc.com)
  • For most genes, their overexpression has little effect due to the body's regulating mechanisms of genes and their products. (cdadc.com)
  • However, neurotrophic peptide PACAP (or Pituitary adenylate cyclase-activating peptide) which is responsible for the development, differentiation, and survival, and various parts of memory and learning, targets RCAN1, a Down syndrome related gene, induces the expression of regulator of calcineurin 1, through activation of the PKA-CREB pathway, and this is important to understand the mechanisms of neural differentiation and aim for proper expression of RCAN1. (wikipedia.org)
  • Genome sequence comparisons across species using bioinformatics revealed three members of the RCAN gene family, RCAN1 , RCAN2 , and RCAN3 , present in most jawed vertebrates, with one member observed in most invertebrates and fungi. (molcells.org)
  • 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. (wikipedia.org)
  • It is suggested that the reason patients with Down syndrome are less predisposed to certain cancers is due to the impact of this gene of reducing blood supply to tumour cells. (wikipedia.org)
  • This large data set enabled formal delineation of a 7.8 Mb common region of amplification harboring 71 genes, 43 of which were differentially expressed compared with non-iAMP21-ALL ones, including multiple genes implicated in the pathogenesis of acute leukemia (CHAF1B, DYRK1A, ERG, HMGN1, and RUNX1). (bvsalud.org)
  • DSCR1 in human is located at the centromeric border of the DSCR and encodes an inhibitor of calcineurin/ NFAT (nuclear factor activated T cells) signalling. (wikipedia.org)