Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Intraflagellar transport protein 81 homolog

The IFT81 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 19.

Genetests:

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

Related Diseases:

Short-rib thoracic dysplasia with or without polydactyly 19
IFT81

References:

1.

Masuda M et. al. (1997) A novel gene suppressed in the ventricle of carnitine-deficient juvenile visceral steatosis mice.

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2.

Higashi M et. al. (2000) Genomic organization and mapping of mouse CDV (carnitine deficiency-associated gene expressed in ventricle)-1 and its related CDV-1R gene.

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3.

Bhogaraju S et. al. (2013) Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.

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4.

Perrault I et. al. (2015) IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

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5.

Duran I et. al. (2016) Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.

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Update: Sept. 26, 2018