Aliases for IFT80 Gene
External Ids for IFT80 Gene
Previous Symbols for IFT80 Gene
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.[provided by RefSeq, Jun 2010]
GeneCards Summary for IFT80 Gene
IFT80 (Intraflagellar Transport 80) is a Protein Coding gene. Diseases associated with IFT80 include short-rib thoracic dysplasia 2 with or without polydactyly and aspiration pneumonitis. An important paralog of this gene is ENSG00000248710.
UniProtKB/Swiss-Prot for IFT80 Gene
Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia.