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Rabbit Anti-Phospholipase C beta 1/FITC Conjugated antibody
background:
Phospholipase C beta 1 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. Its gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for its gene.
Function:
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.
Subunit:
Interacts with DGKQ.
Subcellular Location:
Cytoplasmic and Nuclear.
DISEASE:
Defects in PLCB1 are the cause of epileptic encephalopathy early infantile type 12 (EIEE12) [MIM:613722]. EIEE12 is a form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG.
Similarity:
Contains 1 C2 domain.
Contains 1 PI-PLC X-box domain.
Contains 1 PI-PLC Y-box domain.
Database links:
Entrez Gene: 287026 Cow
Entrez Gene: 23236 Human
Entrez Gene: 18795 Mouse
Entrez Gene: 24654 Rat
Omim: 607120 Human
SwissProt: P10894 Cow
SwissProt: Q9NQ66 Human
SwissProt: Q9Z1B3 Mouse
SwissProt: P10687 Rat
Unigene: 431173 Human
Unigene: 330607 Mouse
Unigene: 45523 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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