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Search results 1 to 1 out of 1 for Pitx2

Category restricted to ProteinDomain (x)

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Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
Description: Rotatin (RTTN) is a centriolar protein that appears to be required for cilia function []. Mouse RTTN is required for embryonic axial rotation, and left-right specification. It is essential for the correct expression of the key left-right specification genes nodal, lefty and Pitx2 []. The Drosophila homologue of rotatin, Anastral spindle 3 (Ana3), is needed for structural integrity of centrioles and basal bodies []and participates in the later stages of centriole assembly through the interaction with Rcd4 leading to the centriole to centrosome conversion []. Rotatin colocalizes with the basal bodies at the primary cilium, and has a role in cilia structure and function []. Mutations in RTTN have been identified in individuals with polymicrogyria, a malformation of the developing cerebral cortex [].