Anti-Phospholipase C epsilon 1 polyclonal antibody (DPATB-H81894)

Rabbit anti-Human Phospholipase C epsilon 1 (aa 161-295) polyclonal antibody for IHC-P

Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Species Reactivity
Human
Immunogen
antigen, corresponding to amino acids 161-295 of Human Phospholipase C epsilon 1, Isoform 1.
Conjugate
Unconjugated

Target


Alternative Names
PLCE; PPLC; NPHS3
Entrez Gene ID
UniProt ID

Product Background


Gene summary
PLCE1 (Phospholipase C Epsilon 1) is a Protein Coding gene. Diseases associated with PLCE1 include nephrotic syndrome, type 3 and familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis. Among its related pathways are Metabolism and cAMP signaling pathway. GO annotations related to this gene include calcium ion binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLCG1. This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Antigen Description
Nephrotic syndrome 3 (NPHS3) [MIM:610725]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen. Note=The disease is caused by mutations affecting the gene represented in this entry. 1-Phosphatidylinositol-4,5-bisphosphate phosphodiesterase epsilon-1 is an enzyme that in humans is encoded by the PLCE1 gene. PLCE1 belongs to the phospholipase family that catalyzes the hydrolysis of polyphosphoinositides such as phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P2) to generate the second messengers Ins(1,4,5)P3 and diacylglycerol. These products initiate a cascade of intracellular responses that result in cell growth and differentiation and gene expression. [supplied by OMIM]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. PLCE1 is a bifunctional enzyme which also regulates small GTPases.

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References


Luo, XP; et al. Phospholipase C epsilon-1 inhibits p53 expression in lung cancer. CELL BIOCHEMISTRY AND FUNCTION 32:294-298(2014).

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