9h2d | pdb_00009h2d
From Proteopedia
Human IFT172 C-terminal U-box domain crystal structure
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Structural highlights
DiseaseIF172_HUMAN Bardet-Biedl syndrome;Jeune syndrome;Retinitis pigmentosa;Saldino-Mainzer syndrome. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. FunctionIF172_HUMAN Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Contents | ||||||||||||||||||||
This page was last modified 06:22, 4 December 2024.