DISEASES

Disease-gene associations mined from literature

Literature associating PRICKLE3 and Aland Island eye disease

PRICKLE3 [ENSP00000470248]

Prickle planar cell polarity protein 3; Involved in the planar cell polarity (PCP) pathway that is essential for the polarization of epithelial cells during morphogenetic processes, including gastrulation and neurulation (By similarity). PCP is maintained by two molecular modules, the global and the core modules, PRICKLE3 being part of the core module (By similarity). Distinct complexes of the core module segregate to opposite sides of the cell, where they interact with the opposite complex in the neighboring cell at or near the adherents junctions (By similarity). Involved in the organization of the basal body (By similarity). Involved in cilia growth and positioning (By similarity). ; Belongs to the prickle / espinas / testin family.

Synonyms:  PRICKLE3,  A0A024QYW5,  A0A0A0MRT7,  F5H4N2,  H0Y413 ...

Linkouts:  STRING  Pharos  UniProt