B9-Domain-Protein 1
Das B9D1-Gen kodiert ein Protein, welches an der Zilienbildung beteiligt ist. Mutationen führen zu autosomal rezessiven Erkrankungen wie Joubert-Syndrom 27 und Meckel-Syndrom 9.
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.
|
3. |
Dowdle WE et al. (2011) Disruption of a ciliary B9 protein complex causes Meckel syndrome.
|
4. |
Romani M et al. (2014) Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
|
5. |
Hopp K et al. (2011) B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
|
6. |
Orphanet article
Orphanet ID 270354
|
7. |
NCBI article
NCBI 27077
|
8. |
OMIM.ORG article
Omim 614144
|
Update: 14. August 2020