|Application ||WB, IF, ICC, E|
|Other Accession||NP_056496, 343478275|
|Calculated MW||22775 Da|
|Application Notes||B9D1 antibody can be used for detection of B9D1 by Western blot at 1 µg/mL. Antibody can also be used for immunocytochemistry starting at 5 µg/mL. For immunofluorescence start at 20 µg/mL.|
|Target/Specificity||B9D1; At least two isoforms of B9D1 are known to exist; this antibody will only recognize the longest isoform. B9D1 antibody is predicted to not cross-react with other DNAJC family members.|
|Reconstitution & Storage||B9D1 antibody can be stored at 4℃ for three months and -20℃, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.|
|Precautions||B9D1 Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).|
|Cellular Location||Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme.|
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Provided below are standard protocols that you may find useful for product applications.
B9D1 Antibody: Meckel syndrome (MKS) is an embryonic lethal, autosomal recessive disorder characterized by polycystic kidney disease, central nervous system defects, polydactyly and liver fibrosis. B9D1 is 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. B9D1, and its related protein B9D2, form a complex with MKS1, disruption of which causes MKS. B9D1 is thought to be required for normal hedgehog signaling, ciliogenesis, and ciliary protein localization.
Williams CL, Winkelbauer ME, Schafer JC, et al. Functional redundancy of the B9 proteins and nephocystins in Caenorhabditis elegans ciliogenesis. Mol. Biol. Cell 2008; 19:2154-68.
Hopp K, Heyer CM, Hommerding CJ, et al. B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. Hum. Mol. Genet. 2011; 20:2524-34.
Dowdle WE, Robinson JF, Kneist A, et al. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am. J. Hum. Genet. 2011; 89:94-110.
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