Product Details

Full Product Name

Rabbit anti-Homo sapiens (Human) CRB2 Polyclonal antibody

Uniprot No.

Q5IJ48

Target Names

CRB2

Alternative Names

Crb2 antibody; CRUM2_HUMAN antibody; Crumbs homolog 2 (Drosophila) antibody; Crumbs homolog 2 antibody; Crumbs-like protein 2 antibody; RP11-230L22.2 antibody

Raised in

Rabbit

Species Reactivity

Human

Immunogen

Recombinant Human Protein crumbs homolog 2 protein (253-483AA)

Immunogen Species

Homo sapiens (Human)

Conjugate

FITC

Clonality

Polyclonal

Isotype

IgG

Purification Method

>95%, Protein G purified

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4

Form

Liquid

Troubleshooting and FAQs

Antibody FAQs

Storage

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Target Background

Function

Apical polarity protein that plays a central role during the epithelial-to-mesenchymal transition (EMT) at gastrulation, when newly specified mesodermal cells move inside the embryo. Acts by promoting cell ingression, the process by which cells leave the epithelial epiblast and move inside the embryo to form a new tissue layer. The anisotropic distribution of CRB2 and MYH10/myosin-IIB at cell edges define which cells will ingress: cells with high apical CRB2 are probably extruded from the epiblast by neighboring cells with high levels of apical MYH10/myosin-IIB. Plays a role in the maintenance of retinal neuroepithelium organization, structural integrity, adhesion, photoreceptor polarity and retinal photoreceptor layer thickness. May play a role in determining the length of cone photoreceptor outer segments and proliferation of late-born progenitor cells. Also required for maintenance of the apical polarity complex during development of the cortex. Inhibits gamma-secretase-dependent cleavage of APP and secretion of amyloid-beta peptide 40 and amyloid-beta peptide 42, and thereby inhibits gamma-secretase-dependent Notch transcription.

Gene References into Functions

Case Report: steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation. PMID: 29473663
These findings demonstrate that Crb2 abnormalities caused by these mutations are the mechanism of steroid-resistant nephrotic syndrome PMID: 27942854
Clinically, CRB2 should be assessed when ciliopathy is suspected, especially in Ashkenazi Jews, where we found that p.N800K carrier frequency is 1 of 64. Patients harboring CRB2 mutations should be tested for the complete range of ciliopathy manifestations. PMID: 26925547
Additional sequence variants in genes involved in kidney development were found in patients with CRB2-related syndrome, suggesting that these variants may modify the phenotype. PMID: 27004616
We demonstrate that CRB2 mutations result in loss of function and therefore constitute causative mutations leading to Nephrotic syndrome in humans. PMID: 25557779
The three families with six affected individuals present compelling evidence for the role of CRB2 in human disease, with a phenotype comprising severe, congenital neurological and renal involvement. PMID: 25557780
Study showed that CRB1 and CRB2 in human retinas have an opposite pattern of expression in Muller glia and photoreceptor cells compared with mouse retinas, and that Crb2 influences the severity of the murine Crb1-linked retinal dystrophies. PMID: 24565864
Observational study of gene-disease association. (HuGE Navigator) PMID: 20583170
results suggest that CRB2 functions as an inhibitory binding protein that is involved in the formation of a mature but inactive pool of the gamma-secretase complex PMID: 20299451
Crumbs homolog 2 gene maps to human chromosome 9q33.3 PMID: 14767562
This study shows that CRB2 sequence variants are not a common cause of autosomal recessive RP and LCA. PMID: 15851977
Using X-ray crystallography and NMR spectroscopy, we show that, despite low amino acid sequence conservation, both 53BP1 and Crb2 contain tandem tudor domains that interact with histone H4 specifically dimethylated at Lys20 (H4-K20me2). PMID: 17190600
overexpression of human CRB1 and related isoforms, CRB2 and CRB3, had no effect on the levels of presenilin complex components, on NCT maturation or on PS endoproteolysis PMID: 17988153
The CRB2 gene encodes a transmembrane protein (1285 aa) and a secreted protein (1176 aa). The transmembrane isoform consists of 14 extracellular EGF-like domains, 3 extracellular laminin G-like domains, and a Crb cytoplasmic tail domain. PMID: 14767562

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Involvement in disease

Focal segmental glomerulosclerosis 9 (FSGS9); Ventriculomegaly with cystic kidney disease (VMCKD)

Subcellular Location

[Isoform 1]: Apical cell membrane; Single-pass type I membrane protein. Cytoplasm. Cell junction.; [Isoform 2]: Secreted.

Protein Families

Crumbs protein family

Tissue Specificity

Expressed in glomeruli, podocytes of the glomerular capillary loops, and parietal glomerular epithelial cells in the kidney (at protein level). Expressed in retina, fetal eye and brain. Also expressed in kidney, RPE/choroid, and at low levels in lung, pla

Database Links

HGNC: 18688

OMIM: 219730

KEGG: hsa:286204

STRING: 9606.ENSP00000362734

UniGene: Hs.568340