Intraflagellar transport protein 122 homolog (IFT122)

IFT122 (Intraflagellar transport protein 122 homolog) is a core component of the intraflagellar transport-A (IFT-A) complex, a multiprotein structure required for the proper assembly, maintenance, and function of primary cilia. The protein is part of the WD repeat family and contains several WD domains facilitating protein complex formation. IFT122 plays a critical role in the retrograde transport of ciliary proteins, meaning it is involved in moving materials from the ciliary tip back to the base, which is necessary for ciliogenesis, ciliary maintenance, and proper signal transduction—particularly the modulation of Sonic Hedgehog signaling, essential for embryonic development and tissue patterning. Pathogenic variants in IFT122 cause autosomal recessive cranioectodermal dysplasia (Sensenbrenner syndrome), marked by head and facial malformations, short bones, and defects in organs with motile cilia (such as kidney and liver). Dysfunction of IFT122 disrupts cilia formation and the correct trafficking of signaling proteins, explaining the multisystem phenotype seen in human ciliopathies[1][3][4][6].

Other names

IFT122WD repeat-containing protein 10WD repeat-containing protein 140WD repeat domain 10WDR10WDR10pWDR140CFAP80FAP80SPGCED1

Not applicable