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B9D1 encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Zusätzlich bieten wir Ihnen B9D1 Proteine (7) und B9D1 Kits (1) und viele weitere Produktgruppen zu diesem Protein an.
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Human Polyclonal B9D1 Primary Antibody für EIA, IF - ABIN1450121
Williams, Winkelbauer, Schafer, Michaud, Yoder: Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis. in Molecular biology of the cell 2008
describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 (zeige MKS1 Antikörper) 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 (zeige MKS1 Antikörper) and B9D1) that cooperates with nephrocystins in ciliogenesis.
MKS-1 (zeige MKS1 Antikörper) and MKS-1 (zeige MKS1 Antikörper)-related proteins 1 and 2 (MKSR-1/EPPB9, MKSR-2/B9D2 (zeige B9D2 Antikörper)), 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 (zeige B9D2 Antikörper) 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