Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.3.16 (calcineurin)
 17,112 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Calcineurin is a calcium/calmodulin-regulated protein phosphatase. By using enzyme-immunoassay and immunocytochemistry with an affinity-purified specific antibody to this protein, we have found that calcineurin is expressed in the central and peripheral neuroendocrine cells, also termed amine precursor uptake and decarboxylation cells. In addition, calcineurin immunoreactivity was found in the central neuroendocrine neoplasms such as pineocytoma, olfactory neuroblastoma and paraganglioma. The present findings indicate that the activity of phosphatase regulated by calcium and calmodulin is involved in neuroendocrine functions, and that the enzyme can be useful for the identification and characterization of neuroendocrine cell tumors.
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PMID:Calcineurin, a calcium/calmodulin-regulated protein phosphatase, in mammalian neuroendocrine cells and neoplasms. 133 5

Protein phosphatase 2A (PP2A) holoenzyme plays a critical role in cell-cycle control and growth-factor signaling, and is implicated in tumorigenesis. Because the protein phosphatase 2 regulatory subunit A beta isoform gene (PPP2R1B) maps within the critical region of hereditary paraganglioma (PGL1) on chromosomal band 11q23, we characterized its genomic structure and evaluated it as a candidate gene for PGL1. PPP2R1B has 15 exons spanning approx. 27kb genomic distance. We placed the exons on genomic EcoRI fragments and identified their flanking intronic sequences. The gene was oriented from telomere to centromere. Splice acceptor and donor sites of all introns conformed to the GT/AG rule. Northern analysis with a cDNA probe identified 2.5kb and 5.0kb transcript sizes. We identified an ATG initiation codon in a favorable context and mapped two transcription start sites 15bp and 66bp upstream of it. We also mapped a 3'-polyadenylation site 504bp downstream of the TGA stop codon, consistent with the 2.5kb transcript size. We did not detect germ-line mutations by single-stranded conformational polymorphism (SSCP) analysis or major rearrangements by Southern analysis in a set of PGL1 patients. In conclusion, we precisely mapped and characterized the structure of PPP2R1B and evaluated it as a candidate gene for PGL1.
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PMID:Genomic organization and precise physical location of protein phosphatase 2A regulatory subunit A beta isoform gene on chromosome band 11q23. 979 70