Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| 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. |
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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| 2. |
Masuda M et al. (1997) A novel gene suppressed in the ventricle of carnitine-deficient juvenile visceral steatosis mice.
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| 3. |
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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| 4. |
Bhogaraju S et al. (2013) Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.
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| 5. |
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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| 6. |
NCBI article NCBI 28981
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| 7. |
OMIM.ORG article Omim 605489
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| 8. |
Wikipedia article Wikipedia EN (IFT81)
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