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PLCB1 phospholipase C beta 1

Also known as: PLC-I; EIEE12; PI-PLC; PLC154; PLCB1A; PLCB1B; PLC-154; PLC-beta-1

Summary

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Associated conditions

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DescriptionTests
Early infantile epileptic encephalopathy 12
MedGen: C3150988OMIM: 613722GeneReviews: Not available
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Genomic context

Location:
20p12
Sequence:
Chromosome: 20; NC_000020.11 (8132236..8884911)
Total number of exons:
38

Links

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