Structural highlights
Disease
IF172_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.
Function
IF172_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).
