Intraflagelläres Transportproteins 74
Das IFT74-Gen kodiert ein intraflaggeläres Trasnportprotein und ist für das autosomal rezessive Bardet-Biedl-Syndroms 20 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Bhogaraju S et al. (2013) Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.
|
2. |
Lindstrand A et al. (2016) Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
|
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.
|
4. |
Ezratty EJ et al. (2011) A role for the primary cilium in Notch signaling and epidermal differentiation during skin development.
|
5. |
NCBI article
NCBI 80173
|
6. |
OMIM.ORG article
Omim 608040
|
Update: 14. August 2020