Dapper-Homolog 1
Das DACT1-Gen kodiert ein Protein welche eine Rolle bei der Signaltransduktion während der Ontogenese spielt. Mutationen rufen das Townes-Brocks-Syndrome 2 hervor.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Webb BD et al. (2017) Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.
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2. |
Cheyette BN et al. (2002) Dapper, a Dishevelled-associated antagonist of beta-catenin and JNK signaling, is required for notochord formation.
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3. |
Katoh M et al. (2003) Identification and characterization of human DAPPER1 and DAPPER2 genes in silico.
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4. |
Park JI et al. (2006) Frodo links Dishevelled to the p120-catenin/Kaiso pathway: distinct catenin subfamilies promote Wnt signals.
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5. |
Suriben R et al. (2009) Posterior malformations in Dact1 mutant mice arise through misregulated Vangl2 at the primitive streak.
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6. |
Shi Y et al. (2012) Identification of novel rare mutations of DACT1 in human neural tube defects.
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7. |
Orphanet article
Orphanet ID 315395
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8. |
NCBI article
NCBI 51339
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9. |
OMIM.ORG article
Omim 607861
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Update: 14. August 2020