InterPro domain: IPR039857
General Information
- Identifier IPR039857
- Description Intraflagellar transport protein 122 homolog
- Number of genes 10
- Gene duplication stats Loading...
- Associated GO terms GO:0060271
Abstract
Intraflagellar transport protein 122 homolog (Ift122) is a multiple WD40-repeat containing protein. It is required for ciliogenesis. Primary cilia are assembled and maintained by evolutionarily conserved intraflagellar transport (IFT) proteins that are involved in the coordinated movement of macromolecular cargo from the basal body to the cilium tip and back. Mice with mutant Ift122 lack cilia and have multiple developmental defects [ 1 ] and the Sonic Hedgehog (Shh) signaling pathway is disrupted [ 2 ].
1. Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4. Dev. Biol. 325, 225-37
2. Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components. Proc. Natl. Acad. Sci. U.S.A. 108, 1456-61