Intraflagellar transport protein 80 homolog
The IFT80 gene encodes a protein that is member of the intraflagellar transport complex B. Mutations cause ausotomal recessive Short-rib thoracic dysplasia with or without polydactyly 2.
Genetests:
Related Diseases:
References:
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Nagase T et al. (2000) Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
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Tüysüz B et al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.
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Beales PL et al. (2007) IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
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Cavalcanti DP et al. (2011) Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.
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Huang W et al. (2008) Identification and characterization of a long isoform of human IFT80, IFT80-L.
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Wang C et al. (2013) IFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathways.
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NCBI article
NCBI 57560
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OMIM.ORG article
Omim 611177
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9. |
Orphanet article
Orphanet ID 160278
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10. |
Wikipedia article
Wikipedia EN (IFT80)
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Update: Aug. 14, 2020