Intraflagellares Transportprotein 81 Homolog
Das IFT81-Gen kodiert ein Protein, welches am intraflagellaren Transportkomplex B beteiligt ist. Mutationen sind für autosomal rezessives SRTD-Syndrom 19 verantwortlich.
Gentests:
| Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
| Bearbeitungszeit |
5 Tage |
| Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
| 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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Update: 9. Mai 2019
