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Background:This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008],

Specifications

Size	50μL/100μL
Target	NF2
Reactivity	Human, Mouse, Rat
Applications	WB, IF, IP, ELISA
MW(Calculated)	70kD
MW(Observed)	70kD
Host Species	Rabbit
Isotype	IgG,Kappa
Conjugate/Modification	Unmodified
Recommended Dilution Ratio	WB 1:2000-1:10000; IF 1:200-1:1000; ELISA 1:5000-1:20000; IP 1:50-1:200;
Formulation	PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
Purification	Recombinant Antibody expressed in animal component-free (ACF) media, purified via Protein A affinity chromatography.
Storage	-15°C to -25°C/1 year(Do not lower than -25°C)
Concentration
Clonality	Monoclonal
Clone Number	RM0952R
Immunogen	The specific immunogen used to produce this antibody is proprietary information.
Specificity	Endogenous
Gene Name	NF2
Protein Name	Merlin
Other Name	NF2; / SCH; / Merlin; / Moesin-ezrin-radixin-like protein; / Neurofibromin-2; / Schwannomerlin; / Schwannomin
Species	Human
Gene ID	4771
Uniprot	P35240,
Species.1	Mouse
Gene ID.1	18016
Uniprot.1	P46662,
Species.2	Rat
Gene ID.2	25744
Uniprot.2	Q63648
Cellular Localization	[Isoform 1]: Cell projection, filopodium membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. In a fibroblastic cell line, isoform 1 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia. Colocalizes with MPP1 in non-myelin-forming Schwann cells. Binds with DCAF1 in the nucleus. The intramolecular association of the FERM domain with the C-terminal tail promotes nuclear accumulation. The unphosphorylated form accumulates predominantly in the nucleus while the phosphorylated form is largely confined to the non-nuclear fractions.; [Isoform 7]: Cytoplasm, perinuclear region. Cytoplasmic granule. Observed in cytoplasmic granules concentrated in a perinuclear location. Isoform 7 is absent from ruffling membranes and filopodia.; [Isoform 9]: Cytoplasm, perinuclear region. Cytoplasmic granule. Observed in cytoplasmic granules concentrated in a perinuclear location. Isoform 9 is absent from ruffling membranes and filopodia.; [Isoform 10]: Nucleus. Cell projection, filopodium membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, perinuclear region. Cytoplasmic granule. Cytoplasm, cytoskeleton. In a fibroblastic cell line, isoform 10 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia.
Tissue Expression	Widely expressed. Isoform 1 and isoform 3 are predominant. Isoform 4, isoform 5 and isoform 6 are expressed moderately. Isoform 8 is found at low frequency. Isoform 7, isoform 9 and isoform 10 are not expressed in adult tissues, with the exception of adult retina expressing isoform 10. Isoform 9 is faintly expressed in fetal brain, heart, lung, skeletal muscle and spleen. Fetal thymus expresses isoforms 1, 7, 9 and 10 at similar levels.
Signaling_pathway	Cellular Processes >> Cellular community - eukaryotes >> Tight junction;Environmental Information Processing >> Signal transduction >> Hippo signaling pathway;Environmental Information Processing >> Signal transduction >> Hippo signaling pathway - multiple species
Research Areas	>>Hippo signaling pathway; / >>Hippo signaling pathway - multiple species; / >>Tight junction
Function	Disease:Defects in NF2 are a cause of schwannomatosis [MIM:162091]; also called congenital cutaneous neurilemmomatosis. Schwannomas are benign tumors of the peripheral nerve sheath that usually occur singly in otherwise normal individuals. Multiple schwannomas in the same individual suggest an underlying tumor-predisposition syndrome. The most common such syndrome is NF2. The hallmark of NF2 is the development of bilateral vestibular-nerve schwannomas; but two-thirds or more of all NF2-affected individuals develop schwannomas in other locations, and dermal schwannomas may precede vestibular tumors in NF2-affected children. There have been several reports of individuals with multiple schwannomas who do not show evidence of vestibular schwannoma. Clinical report suggests that schwannomatosis is a clinical entity distinct from other forms of neurofibromatosis.,Disease:Defects in NF2 are the cause of neurofibromatosis 2 (NF2) [MIM:101000]; also known as central neurofibromatosis. NF2 is a genetic disorder characterized by bilateral vestibular schwannomas (formerly called acoustic neuromas), schwannomas of other cranial and peripheral nerves, meningiomas, and ependymomas. It is inherited in an autosomal dominant fashion with full penetrance. Affected individuals generally develop symptoms of eighth-nerve dysfunction in early adulthood, including deafness and balance disorder. Although the tumors of NF2 are histologically benign, their anatomic location makes management difficult, and patients suffer great morbidity and mortality.,Function:Probably acts as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity.,similarity:Contains 1 FERM domain.,subcellular location:In a fibroblastic cell line, isoform 1 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia.,subcellular location:In a fibroblastic cell line, isoform 10 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia.,subcellular location:Observed in cytoplasmic granules concentrated in a perinuclear location. Isoform 7 is absent from ruffling membranes and filopodia.,subcellular location:Observed in cytoplasmic granules concentrated in a perinuclear location. Isoform 9 is absent from ruffling membranes and filopodia.,subunit:Interacts with SLC9A3R1, HGS and AGAP2. Interacts with LAYN (By similarity). Interacts with SGSM3.,tissue specificity:Widely expressed. Isoforms 1 and 3 are predominant, isoforms 4, 5 and 6 are expressed moderately, isoform 8 is found at low frequency. Isoforms 7, 9 and 10 are not expressed in adult tissues, with the exception of adult retina expressing isoform 10. Isoform 9 is faintly expressed in fetal brain, heart, lung, skeletal muscle and spleen. Fetal thymus expresses isoforms 1, 7, 9 and 10 at similar levels.,

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U-Blot® NF2 Rabbit mAb

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U-Blot® NF2 Rabbit mAb

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