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Rabbit Anti-CELSR1/FITC Conjugated antibody
background:
The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]
Function:
Receptor that may have an important role in cell/cell signaling during nervous system formation.
Subcellular Location:
Integral membrane protein
Post-translational modifications:
The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains (By similarity).
DISEASE:
Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. Note=The disease may be caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
Contains 9 cadherin domains.
Contains 8 EGF-like domains.
Contains 1 GPS domain.
Contains 1 laminin EGF-like domain.
Contains 2 laminin G-like domains.
Database links:
Entrez Gene: 9620 Human
Omim: 604523 Human
SwissProt: Q9NYQ6 Human
Unigene: 252387 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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