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IFT80 is required for osteoblast differentiation.
loss of IFT80 blocks chondrocyte differentiation by disruption of ciliogenesis and alteration of Hh and Wnt signaling transduction.
Silencing IFT80 impaired cilia formation and chondrogenic differentiation in mouse bone marrow derived stromal cells
IFT80 plays an important role in osteogenesis through regulating Hedgehog/Gli signal pathways.
an absolute requirement for Ift80 in hedgehog signalling, but low level expression permits ciliogenesis indicating separate but linked roles for this protein in formation and function.
Mutations in IFT80 can be responsible for a lethal form of short-rib polydactyly and provide the molecular basis for the Jeune-Verma-Naumoff dysplasia spectrum.
Mutations in IFT80 is associated with Jeune asphyxiating thoracic dystrophy
Identification and characterization of a human IFT80 long isoform (namely IFT80-L), the carboxyl terminus of which shares the protein sequence of IFT80, is reported.
The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.
WD repeat domain 56
, WD repeat-containing protein 56
, intraflagellar transport 80 homolog
, intraflagellar transport protein 80 homolog