catalog number :
MBS7217847
products type :
ELISA Kit
products full name :
Human 1 phosphatidylinositol 4, 5 bisphosphate phosphodiesterase beta 4 ELISA Kit
products short name :
1 phosphatidylinositol 4, 5 bisphosphate phosphodiesterase beta 4
products name syn :
Human 1 phosphatidylinositol 4, 5 bisphosphate phosphodiesterase b 4 ELISA Kit
other names :
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4; PLC-beta-4; phosphoinositidase C; inositoltrisphosphohydrolase; triphosphoinositide phosphodiesterase; phosphoinositide phospholipase C-beta-4; monophosphatidylinositol phosphodiesterase; 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate; dJ1119D9.2 (Phopholipase C, beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4)); phospholipase C, beta 4; Phosphoinositide phospholipase C-beta-4; Phospholipase C-beta-4; PLC-beta-4
products gene name :
PLCB4
products gene name syn :
PLCB4
other gene names :
PLCB4; PLCB4; ARCND2; PI-PLC; PLC-beta-4
uniprot entry name :
PLCB4_HUMAN
storage stability :
Store all reagents at 2-8 degree C.
products categories :
Signal Transduction
ncbi mol weight :
135,845 Da
ncbi pathways :
Adrenergic Signaling In Cardiomyocytes Pathway (908257); Adrenergic Signaling In Cardiomyocytes Pathway (909696); African Trypanosomiasis Pathway (194384); African Trypanosomiasis Pathway (194323); Alzheimer's Disease Pathway (83097); Alzheimer's Disease Pathway (509); Alzheimers Disease Pathway (672448); Amoebiasis Pathway (167324); Amoebiasis Pathway (167191); Calcium Signaling Pathway (83050)
ncbi 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 in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]
uniprot summary :
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