B9 domain-containing protein 1
The B9D1 gene encodes a membrane protein essential for cilia assambly. Mutations cause autosomal recessive Joubert syndrome 27 and Meckel syndrome 9.
Genetests:
Related Diseases:
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. |
Dowdle WE et al. (2011) Disruption of a ciliary B9 protein complex causes Meckel syndrome.
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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.
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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.
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6. |
Orphanet article
Orphanet ID 270354
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7. |
NCBI article
NCBI 27077
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8. |
OMIM.ORG article
Omim 614144
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Update: Aug. 14, 2020