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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Together with FUZ and WDPCP proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies.
基因功能參考文獻(xiàn):
Inflammatory cytokines cause reduced WDPCP expression, which contributes to impaired ciliogenesis in human rhinosinusitis. PMID: 28001338
study linked mutations in Fritz to Bardet-Biedl and Meckel-Gruber syndromes, a notable link given that other genes mutated in these syndromes also influence collective cell movement and ciliogenesis PMID: 20671153
相關(guān)疾病:
Bardet-Biedl syndrome 15 (BBS15); Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP)