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B9D1 encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis.
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describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 (show MKS1 Antibodies) or B9D1, two genes previously implicated only in Meckel syndrome
B9D1 is a novel Meckel syndrome gene
Ciliary transition zone localization. Functions in a module with related proteins (MKS1 (show MKS1 Antibodies) and B9D1) that cooperates with nephrocystins in ciliogenesis.
MKS-1 (show MKS1 Antibodies) and MKS-1 (show MKS1 Antibodies)-related proteins 1 and 2 (MKSR-1/EPPB9, MKSR-2/B9D2 (show B9D2 Antibodies)), localize to transition zones/basal bodies of sensory cilia; subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins
B9d1 is required for normal Hh signaling, ciliogenesis, and ciliary protein localization. B9d1 and B9d2 (show B9D2 Antibodies) are essential components of a B9 protein complex, disruption of which causes Meckel syndrome.
This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Three alternatively spliced transcript variants that encode different proteins have been described for this gene.
B9 domain-containing protein 1
, MKS1-related protein 1
, endothelial precursor protein B9
, endothelial precursor cells protein B9