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Gene Review: 

PPP3CB  -  protein phosphatase 3, catalytic subunit,...

Homo sapiens

Synonyms: CALNA2, CALNB, CAM-PRP catalytic subunit, CNA2, Calmodulin-dependent calcineurin A subunit beta isoform, ...
 
 
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High impact information on PPP3CB

  • We recently assigned a CNA2 locus to a region on chromosome 12 by linkage analysis [1].
  • Based on linkage disequilibrium analysis, the critical region for CNA2 could be narrowed to only 0.04-0.3 cM from marker D12S351, thus defining a critical interval 0.08-0.60 cM in length [2].
  • Single-strand conformational polymorphism (SSCP) analysis of cDNAs derived from the coding region for amino acids 281-414 of CNA1 and CNA2 in 32 healthy Caucasians did not detect polymorphic variations within these genes [3].
  • Calcineurin B (PPP3R1) is located on human chromosome 2p16-->p15 and calcineurin A beta (PPP3CB, previous gene symbol CALNB) is present on 10q21-->q22 [4].

References

  1. The genetics of cornea plana congenita. Tahvanainen, E., Forsius, H., Kolehmainen, J., Damsten, M., Fellman, J., de la Chapelle, A. J. Med. Genet. (1996) [Pubmed]
  2. Linkage disequilibrium mapping of the cornea plana congenita gene CNA2. Tahvanainen, E., Forsius, H., Damsten, M., Karila, E., Kolehmainen, J., Weissenbach, J., Sistonen, P., de la Chapelle, A. Genomics (1995) [Pubmed]
  3. Genetic conservation of the immunophilin-binding domains of human calcineurin A1 and A2. Brogan, I.J., Pravica, V., Hutchinson, I.V. Transpl. Immunol. (2000) [Pubmed]
  4. Calcineurin A alpha (PPP3CA), calcineurin A beta (PPP3CB) and calcineurin B (PPP3R1) are located on human chromosomes 4, 10q21-->q22 and 2p16-->p15 respectively. Wang, M.G., Yi, H., Guerini, D., Klee, C.B., McBride, O.W. Cytogenet. Cell Genet. (1996) [Pubmed]
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