IFT80 is a 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.
Function:
Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia.
Subcellular Location:
Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body (By similarity). Cytoplasm, cytoskeleton, cilium axoneme (By similarity). Note=Basal body and ciliary axoneme (By similarity).
DISEASE:
Asphyxiating thoracic dystrophy 2 (ATD2) [MIM:611263]: An autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 7 WD repeats.
SWISS:
Q9P2H3
Gene ID:
57560
Database links:
Entrez Gene: 57560 Human
Omim: 611177 Human
SwissProt: Q9P2H3 Human
Unigene: 478095 Human
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