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B9D1 encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Additionally we are shipping B9D1 Antibodies (11) and B9D1 Proteins (7) and many more products for this protein.
describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 (show MKS1 ELISA Kits) 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 ELISA Kits) and B9D1) that cooperates with nephrocystins in ciliogenesis.
MKS-1 (show MKS1 ELISA Kits) and MKS-1 (show MKS1 ELISA Kits)-related proteins 1 and 2 (MKSR-1/EPPB9, MKSR-2/B9D2 (show B9D2 ELISA Kits)), 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 ELISA Kits) 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