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a truncating mutation in TCTN2 linked to Meckel Gruber syndrome was shown.
Network building strategy led to the proposal of candidates for new ciliopathy disease genes, leading to the identification of the first human mutations in the Nephronophthisis gene Ataxin10 (ATXN10 (show ATXN10 Proteins)) and Joubert syndrome gene Tectonic2 (TCTN2).
Loss of Tctn2 is associated with ciliopathies.
This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
tectonic family member 2
, tectonic 2