Q15147.3
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
135,845 Da
NCBI Official Full Name
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4
NCBI Official Synonym Full Names
phospholipase C, beta 4
NCBI Protein Information
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))
UniProt Protein Name
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4
UniProt Synonym Protein Names
Phosphoinositide phospholipase C-beta-4; Phospholipase C-beta-4; PLC-beta-4
UniProt Synonym Gene Names
UniProt Entry Name
PLCB4_HUMAN
NCBI Summary for PLCB4
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 Comments for PLCB4
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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Pathways associated with PLCB4 elisa kit
Diseases associated with PLCB4 elisa kit
Organs/Tissues associated with PLCB4 elisa kit
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