Cleave But Not Leave: Astrotactin Proteins in Development and Disease

In the 2017 review, Hao Chang explored the functions of astrotactin proteins, Astn1 and Astn2, in the development of the central nervous system and skin, as well as their links to various diseases. Astrotactins are crucial for neuronal migration in the CNS and hair follicle orientation in skin. Astn1 knockout mice showed a reduced cerebellum size and coordination issues, while Astn2's role in CNS is less understood but is believed to be similar to Astn1. Mutations in astrotactin genes are associated with neurodevelopmental disorders like autism, ADHD, OCD, and schizophrenia. The review emphasized the need for more research into astrotactin's molecular mechanisms and their disease roles, noting that despite intramembrane proteolysis, the cleaved fragments of astrotactins remain connected by disulfide bonds.