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crumbs homolog 2 (CRB2)
Function:
- polarized cells morphogenesis
Compartment:
- isoform 1: cell membrane
- isoform 2: secreted
Alternative splicing: named isoforms=3
Expression:
- expressed in retina, fetal eye, brain, kidney, choroid cell lines > lung, placenta, heart
Pathology:
1) defects in CRB2 may be a cause of retinitis pigmentosa
2) defects in CRB2 may be a cause of Leber congenital amaurosis
Related
Leber congenital amaurosis
retinitis pigmentosa (RP)
General
glycoprotein
membrane protein
secreted protein
Properties
SIZE: MW = 134 kD
entity length = 1285 aa
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-28}
EGF domain {223-259} (15)
MOTIF: cysteine residue {C227}
MODIFICATION: cysteine residue {C238}
cysteine residue {C232}
MODIFICATION: cysteine residue {C247}
N-glycosylation site {N235}
cysteine residue {C238}
MODIFICATION: cysteine residue {C227}
cysteine residue {C247}
MODIFICATION: cysteine residue {C232}
cysteine residue {C249}
MODIFICATION: cysteine residue {C258}
cysteine residue {C258}
MODIFICATION: cysteine residue {C249}
transmembrane domain {1225-1245}
Database Correlations
OMIM correlations
UniProt Q5IJ48
References
UniProt :accession Q5IJ48