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meckelin


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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.


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