Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The IFT74 gene encodes an intraflaggelar transport protein. It is responsible for autosomal recessive Bardet-Biedl syndrome 20.
| 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 |
| 1. |
Bhogaraju S et al. (2013) Molecular basis of tubulin transport within the cilium by IFT74 and IFT81. 
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| 2. |
Lindstrand A et al. (2016) Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
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| 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.
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| 4. |
Ezratty EJ et al. (2011) A role for the primary cilium in Notch signaling and epidermal differentiation during skin development.
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| 5. |
NCBI article NCBI 80173
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| 6. |
OMIM.ORG article Omim 608040
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| 7. |
Wikipedia article Wikipedia EN (IFT74)
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