Cadherin EGF LAG seven-pass G-type receptor 1 also known as flamingo homolog 2 or cadherin family member 9 is a
protein that in humans is encoded by the CELSR1gene.[5][6]
Function
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 G-like domains 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.[6]
Nollet F, Kools P, van Roy F (2000). "Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members". J. Mol. Biol. 299 (3): 551–72.
doi:
10.1006/jmbi.2000.3777.
PMID10835267.
Gross J, Grimm O, Ortega G, et al. (2002). "Mutational analysis of the neuronal cadherin gene CELSR1 and exclusion as a candidate for catatonic schizophrenia in a large family". Psychiatr. Genet. 11 (4): 197–200.
doi:
10.1097/00041444-200112000-00003.
PMID11807409.
S2CID32757646.
Georgieva L, Nikolov I, Poriazova N, et al. (2004). "Genetic variation in the seven-pass transmembrane cadherin CELSR1: lack of association with schizophrenia". Psychiatr. Genet. 13 (2): 103–6.
doi:
10.1097/01.ypg.0000057486.14812.03.
PMID12782967.
S2CID28084057.