| UniProt Protein Function: | IFT80: Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia. Defects in IFT80 are the cause of asphyxiating thoracic dystrophy type 2 (ATD2). 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.Chromosomal Location of Human Ortholog: 3q25.33Cellular Component: centrosome; cilium; cytoplasmBiological Process: chondrocyte differentiation; cilium biogenesis; negative regulation of epithelial cell proliferation; osteoblast differentiation; positive regulation of smoothened signaling pathway; sensory cilium biogenesis; smoothened signaling pathwayDisease: Short-rib Thoracic Dysplasia 2 With Or Without Polydactyly |
| UniProt Protein Details: | |
| NCBI 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] |
| UniProt Code: | Q9P2H3 |
| NCBI GenInfo Identifier: | 298160998 |
| NCBI Gene ID: | 57560 |
| NCBI Accession: | NP_001177171.1 |
| UniProt Secondary Accession: | Q9P2H3,Q3MJC4, Q86YF4, Q9UIX1, B4E0K1, C9J8I0 |
| UniProt Related Accession: | Q9P2H3 |
| Molecular Weight: | 123,321 Da |
| NCBI Full Name: | intraflagellar transport protein 80 homolog isoform b |
| NCBI Synonym Full Names: | intraflagellar transport 80 |
| NCBI Official Symbol: | IFT80Â Â |
| NCBI Official Synonym Symbols: | ATD2; SRTD2; WDR56Â Â |
| NCBI Protein Information: | intraflagellar transport protein 80 homolog |
| UniProt Protein Name: | Intraflagellar transport protein 80 homolog |
| UniProt Synonym Protein Names: | WD repeat-containing protein 56 |
| Protein Family: | Intraflagellar transport protein |
| UniProt Gene Name: | IFT80Â Â |
| UniProt Entry Name: | IFT80_HUMAN |
