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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
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. |
Drévillon L et al. (2013) KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
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4. |
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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5. |
Alves MM et al. (2010) KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.
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6. |
Orphanet article
Orphanet ID 122834
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7. |
NCBI article
NCBI 26128
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8. |
OMIM.ORG article
Omim 609367
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Update: 14. August 2020