| Gene Symbol | IFT80 |
| Entrez Gene ID | 57560 |
| Full Name | intraflagellar transport 80 |
| Synonyms | ATD2,SRTD2,WDR56 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3) |
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