Show Summary Details

Quick Reference

The product (995 aa) of a gene that is mutated in Meckel's syndrome type 3 and localizes both to the primary cilium and to the plasma membrane in ciliated cells. It interacts with the product of the gene mutated in type 1 Meckel's syndrome, and appears to mediate a fundamental developmental stage of ciliary formation and epithelial morphogenesis. The predicted structure of meckelin has some topological similarity with the Frizzled (FZD) family of receptor proteins.

Subjects: Medicine and Health.

Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.