Human 1 phosphatidylinositol 4, 5 bisphosphate phosphodiesterase beta 4 ELISA Kit | PLCB4 elisa kit
Human 1 phosphatidylinositol 4, 5 bisphosphate phosphodiesterase beta 4 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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 in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]
Uniprot Description
PLCB4: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This form has a role in retina signal transduction. Defects in PLCB4 are the cause of auriculocondylar syndrome type 2 (ARCND2). ARCND2 is an autosomal dominant craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Carbohydrate Metabolism - inositol phosphate; Phospholipase; EC 3.1.4.11
Chromosomal Location of Human Ortholog: 20p12
Cellular Component: smooth endoplasmic reticulum; dendrite; postsynaptic density; nucleus; cytosol
Molecular Function: signal transducer activity; calcium ion binding; phospholipase C activity; phosphoinositide phospholipase C activity
Biological Process: inositol phosphate metabolic process; lipid catabolic process
Disease: Auriculocondylar Syndrome 2
Research Articles on PLCB4
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Product Notes
The Human PLCB4 plcb4 (Catalog #AAA7217847) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7217847 ELISA Kit recognizes Human PLCB4. It is sometimes possible for the material contained within the vial of "1 phosphatidylinositol 4, 5 bisphosphate phosphodiesterase beta 4, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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