Intraflagellarer Transporter 140
Das IFT140-Gen kodiert ein für die Zilienfunktion wichtiges Transportprotein. Mutationen werden beim SRTD-Syndrom 9 beobachtet.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Nagase T et al. (1998) Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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2. |
Perrault I et al. (2012) Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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3. |
Schmidts M et al. (2013) Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
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4. |
Miller KA et al. (2013) Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.
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5. |
OMIM.ORG article
Omim 614620
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6. |
Orphanet article
Orphanet ID 302892
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7. |
NCBI article
NCBI 9742
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Update: 14. August 2020