Calcineurin subunit B type 1 also known as protein phosphatase 2B regulatory subunit 1 is a protein that in humans is encoded by the PPP3R1 gene.[1][2][3]

Clinical significance

The presence of a single nucleotide polymorphism rs1868402 in the PPP3R1 gene is strongly correlated with rapid progress of Alzheimer's disease.[4]

References

  1. ^ Wang MG, Yi H, Guerini D, Klee CB, McBride OW (Jan 1997). "Calcineurin A alpha (PPP3CA), calcineurin A beta (PPP3CB) and calcineurin B (PPP3R1) are located on human chromosomes 4, 10q21→q22 and 2p16→p15 respectively". Cytogenet Cell Genet. 72 (2–3): 236–41. doi:10.1159/000134198. PMID 8978785
  2. ^ Guerini D, Krinks MH, Sikela JM, Hahn WE, Klee CB (Mar 1990). "Isolation and sequence of a cDNA clone for human calcineurin B, the Ca2+-binding subunit of the Ca2+/calmodulin-stimulated protein phosphatase". DNA. 8 (9): 675–82. doi:10.1089/dna.1.1989.8.675. PMID 2558868
  3. ^ "Entrez Gene: PPP3R1 protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform"
  4. ^ Cruchaga C, Kauwe JS, Mayo K, Spiegel N, Bertelsen S, etal (2010). "SNPs Associated with Cerebrospinal Fluid Phospho-Tau Levels Influence Rate of Decline in Alzheimer's Disease". PLOS Genet. 6 (9). doi:10.1371/journal.pgen.1001101. PMC 2940763. PMID 20862329

Further reading