B9-Domain-Protein 2
Das B9D2-Gen kodiert ein Protein, welches an der Zilienbildung beteiligt ist. Mutationen führen zu autosomal rezessiven Erkrankungen wie Joubert-Syndrom 34 und Meckel-Syndrom 10.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Williams CL et al. (2011) MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.
|
2. |
Bialas NJ et al. (2009) Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.
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3. |
Bachmann-Gagescu R et al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
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4. |
Dowdle WE et al. (2011) Disruption of a ciliary B9 protein complex causes Meckel syndrome.
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5. |
Town T et al. (2008) The stumpy gene is required for mammalian ciliogenesis.
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6. |
NCBI article
NCBI 80776
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7. |
OMIM.ORG article
Omim 611951
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8. |
Orphanet article
Orphanet ID 279753
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Update: 14. August 2020