機能Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport (PubMed:20889716). Involved in cilia function and/or assembly (By similarity). Associates with the BBSome complex to mediate ciliary transport.
組織特異性Some isoforms are tissue-specific. Highly expressed in the prostate. Lower expression in the cerebellum, pituitary gland, fetal lung, and pancreas. In normal prostate, expressed in both basal and luminal epithelial cells. No expression detected in fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes. Uniformed expression in prostate adenocarcinoma cells.
関連疾患Cranioectodermal dysplasia 4 Short-rib thoracic dysplasia 5 with or without polydactyly Nephronophthisis 13 Senior-Loken syndrome 8
細胞内局在Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium, photoreceptor outer segment. Localizes to photoreceptor connecting cilia, to the base of motile cilia in brain ependymal cells and to the base of and along primary cilia in kidney cells.