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Center for Nephrology and Metabolic Disorders
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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 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
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.

external link
2.

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

external link
3.

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.

external link
4.

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

external link
5.

NCBI article

NCBI 80173 external link
6.

OMIM.ORG article

Omim 608040 external link
7.

Wikipedia article

Wikipedia EN (IFT74) external link
Update: Aug. 14, 2020
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