background:
CRB2 is a 1,285 amino acid protein that contains three laminin G-like domains and 15 EGF-like domains and exists as multiple alternatively spliced isoforms that are either secreted or membrane bound. Expressed in kidney and retina, as well as in fetal eye and brain, CRB2 is thought to play a role in the morphogenesis of polarized cells and may be involved in DNA repair. Defects in the gene encoding CRB2 are associated with the pathogenesis of autosomal recessive retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), the former of which refers to a group of diseases that lead to the degeneration of retinal photoreceptor cells, ultimately resulting in a loss of vision. The gene encoding CRB2 maps to human chromosome 9, which houses over 900 genes and comprises nearly 4% of the human genome.
Function:
May play a role in polarized cells morphogenesis.
Subcellular Location:
Secreted and Cell membrane.
Tissue Specificity:
Expressed in retina, fetal eye and brain. Also expressed in kidney, ARPE-19 and RPE/choroid cell lines, and at low levels in lung, placenta, and heart.
Similarity:
Belongs to the Crumbs protein family.
Contains 15 EGF-like domains.
Contains 3 laminin G-like domains.
Database links:
Entrez Gene: 286204 Human
Entrez Gene: 241324 Mouse
Entrez Gene: 366031 Rat
Omim: 609720 Human
SwissProt: Q5IJ48 Human
SwissProt: Q80YA8 Mouse
Unigene: 710092 Human
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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