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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Short-rib thoracic dysplasia with or without polydactyly 02
IFT80

References:

1.

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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2.

Tüysüz B et al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.

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3.

Beales PL et al. (2007) IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

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4.

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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5.

Huang W et al. (2008) Identification and characterization of a long isoform of human IFT80, IFT80-L.

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6.

Wang C et al. (2013) IFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathways.

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7.

NCBI article

NCBI 57560 external link
8.

OMIM.ORG article

Omim 611177 external link
9.

Orphanet article

Orphanet ID 160278 external link
10.

Wikipedia article

Wikipedia EN (IFT80) external link
Update: Aug. 14, 2020
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