Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

B9 domain-containing protein 2

The B9D2 gene encodes a membrane protein essential for cilia assambly. Mutations cause autosomal recessive Joubert syndrome 34 and Meckel syndrome 10.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Meckel syndrome 10
B9D2
Joubert syndrome 34
B9D2

References:

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.

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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 [^]
7.

OMIM.ORG article

Omim 611951 [^]
8.

Orphanet article

Orphanet ID 279753 [^]
Update: April 29, 2019