The NDP gene provides instructions for making a protein called norrin. Norrin participates in chemical signaling pathways that affect the way cells and tissues develop. Studies suggest that norrin may play a role in Wnt signaling, which is important for cell division (proliferation), attachment of cells to one another (adhesion), cell movement (migration), and many other cellular activities.
Norrin is one of many proteins, or ligands, that can attach (bind) to other proteins called frizzled receptors. These receptors are embedded in the outer membranes of cells. Norrin binds with the receptor frizzled-4 (produced from the FZD4 gene). The two proteins fit together like a key in a lock. When a ligand binds to a frizzled receptor, it initiates a multi-step process that regulates the activity of certain genes.
The norrin protein and frizzled-4 participate in developmental processes that are believed to be crucial for normal development of the eye and other body systems. In particular, norrin seems to play critical roles in the specialization of cells in the retina (the light-sensitive tissue that lines the back of the eye) and the formation of blood vessels in the retina and in the inner ear.
Other Names
Related Genetics Topics
- Norrie disease — MedlinePlus Genetics
- Familial exudative vitreoretinopathy — MedlinePlus Genetics
- Anophthalmia/Microphthalmia — MedlinePlus Genetics
Identifiers
- NCBI Gene: 4693
- OMIM: 300658
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
