Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The IFT172 gene encodes a ciliary protein that is responsible for intraflagellar transport. Mutations cause various recessive ciliopathies such as Short-rib thoracic dysplasia with or without polydactyly 10, and Nephronophthisis 17.
| Research | 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. |
Hirosawa M et al. (1999) Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. 
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| 2. |
Halbritter J et al. (2013) Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
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| 3. |
Howard PW et al. (2000) Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors.
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| 4. |
Huangfu D et al. (2003) Hedgehog signalling in the mouse requires intraflagellar transport proteins.
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| 5. |
Bujakowska KM et al. (2015) Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
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| 6. |
Orphanet article Orphanet ID 371219
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| 7. |
NCBI article NCBI 26160
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| 8. |
OMIM.ORG article Omim 607386
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