Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Intraflagellar transport protein 74 homolog

The IFT74 gene encodes an intraflaggelar transport protein. It is responsible for autosomal recessive Bardet-Biedl syndrome 20.

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:

Bardet-Biedl syndrome 20
IFT74

References:

1.

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

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2.

Bell SE et. al. (2001) Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling.

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3.

Ezratty EJ et. al. (2011) A role for the primary cilium in Notch signaling and epidermal differentiation during skin development.

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4.

Lindstrand A et. al. (2016) Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

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Update: Sept. 26, 2018