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  • Human PLCB4 wild-type allele is located within 20p12.3-p12.2 and is approximately 412 kb in length. This allele, which encodes 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 protein, plays a role in diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) synthesis. Mutation of the gene is associated with auriculocondylar syndrome 2.
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