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) |