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Protein Page:
PLCB4 (human)

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; Phospholipase
Chromosomal Location of Human Ortholog: 20p12
Cellular Component: cytosol
Molecular Function: phosphoinositide phospholipase C activity; phospholipase C activity
Biological Process: inositol phosphate metabolic process
Disease: Auriculocondylar Syndrome 2
Reference #:  Q15147 (UniProtKB)
Alt. Names/Synonyms: 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate; 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta 4; 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-4; dJ1119D9.2 (Phopholipase C, beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4)); FLJ16169; inositoltrisphosphohydrolase; monophosphatidylinositol phosphodiesterase; phosphoinositidase C; phosphoinositide phospholipase C; Phosphoinositide phospholipase C-beta-4; phospholipase C, beta 4; Phospholipase C-beta-4; PI-PLC; PLC-beta-4; PLCB4; triphosphoinositide phosphodiesterase
Gene Symbols: PLCB4
Molecular weight: 134,464 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
Select Structure to View Below


Protein Structure Not Found.

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