Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

KIF1-Bindungsprotein

Das KIF1BP-Gen kodiert eine Kinesin, welches für den Transport von Mitochondrien verantwortlich ist. Mutationen führen zum autosomal rezessiven Goldberg-Shprintzen-Megacolon-Syndrom.

Diagnostik:

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

Krankheiten:

Goldberg-Shprintzen-Syndrom
KIF1BP

Referenzen:

1.

Nagase T et. al. (1999) Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

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2.

Brooks AS et. al. (2005) Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

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3.

Alves MM et. al. (2010) KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.

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4.

Drévillon L et. al. (2013) KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.

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5.

Valence S et. al. (2013) Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.

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