Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

SRTD-Syndrom (Short-rib thoracic dysplasia) 19
IFT81

Referenzen:

1.

Masuda M et. al. (1997) A novel gene suppressed in the ventricle of carnitine-deficient juvenile visceral steatosis mice.

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2.

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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3.

Bhogaraju S et. al. (2013) Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.

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4.

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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5.

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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Update: 28. März 2018