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Beschreibung

Kinesin-like protein KIF7 (UniProt: Q2M1P5, also known as KIF7) is encoded by the KIF7 (also known as UNQ340/PRO539) gene (Gene ID: 374654) in human. KIF7 is a member of kinesin-4 family that is essential for hedgehog signaling regulation. It localizes to cilia tips, the site of microtubule plus-ends, where it limits cilia length and controls cilia structure. KIF7 is required for the normal structure of primary cilia and in the absence of KIF7, cilia are long and unstable. KIF7 acts as both a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms. It negatively regulates Shh signaling by preventing inappropriate activation of the transcriptional activator Gli2 in the absence of ligand and positively regulates Shh signaling by preventing the processing of the Gli3 into its repressor form. KIF7 physically interacts with Gli transcription factors and controls their proteolysis and stability. Defects in KIF7 gene can lead to ciliary dysfunction, which result in a broad spectrum of disorders, collectively termed ciliopathies, including the Bardet-Biedl syndrome, a syndrome characterized by severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation, and mental retardation. (Ref.: Cheung. H.O. et al. (2009). Sci. Signal. 2(76):ra29).