Aliases for IFT80 Gene
External Ids for IFT80 Gene
Previous HGNC Symbols for IFT80 Gene
Previous GeneCards Identifiers 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 Asphyxiating Thoracic Dystrophy. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. 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.