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. Note: This description may include information from UniProtKB.
Protein type: Carbohydrate Metabolism - inositol phosphate; EC 3.1.4.11; Phospholipase
Chromosomal Location of Human Ortholog: 2 F3|2 66.64 cM
Cellular Component:  cytoplasm; dendrite; nucleus; postsynaptic density; smooth endoplasmic reticulum
Molecular Function:  mitogen-activated protein kinase binding; phosphoinositide phospholipase C activity; protein binding
Biological Process:  negative regulation of potassium ion transport
Reference #:  Q91UZ1 (UniProtKB)
Alt. Names/Synonyms: 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-4; A930039J07Rik; AI854601; C230058B11Rik; OTTMUSP00000017026; Phosphoinositide phospholipase C; Phospholipase C beta 4; Phospholipase C, beta 4; Plcb4
Gene Symbols: Plcb4
Molecular weight: 134,528 Da
Basal Isoelectric point: 6.47  Predict pI for various phosphorylation states
CST Pathways:  Actin Dynamics  |  AMPK Signaling  |  ErbB/HER Signaling  |  GPCR Signaling to MAPKs
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PLCB4

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  RCSB PDB  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene