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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.
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| Protein type: Carbohydrate Metabolism - inositol phosphate; EC 3.1.4.11; Phospholipase |
| Chromosomal Location of Human Ortholog: 2 F3|2 66.64 cM |
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Cellular Component:
cytoplasm; dendrite; nucleus; postsynaptic density; smooth endoplasmic reticulum
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Molecular Function:
mitogen-activated protein kinase binding; phosphoinositide phospholipase C activity; protein binding
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Biological Process:
negative regulation of potassium ion transport
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Reference #:
Q91UZ1
(UniProtKB)
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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
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Gene Symbols: Plcb4
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Molecular weight:
134,528 Da
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Basal Isoelectric point:
6.47
Predict pI for various phosphorylation states
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CST Pathways:
Actin Dynamics
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AMPK Signaling
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ErbB/HER Signaling
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GPCR Signaling to MAPKs
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