Disease-gene associations mined from literature

Literature associating CRB2 and Leber congenital amaurosis 8

CRB2 [ENSP00000362734]

Protein crumbs homolog 2; 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. Also required for maintenance of the apical polarity complex during development of the cortex.

Synonyms:  CRB2,  CRB2p,  hCRB2,  Q5IJ48,  FLJ16786 ...

Linkouts:  STRING  Pharos  UniProt  OMIM