Anti-B9 domain-containing protein 1 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.

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.

B9D1 antibody was raised against an 18 amino acid synthetic peptide near the carboxy terminus of human B9D1. The immunogen is located within amino acids 130 - 180 of B9D1.

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) . .

B9D1 antibody can be stored at 4°C for three months and -20°C, stable for up to one year. Avoid repeated freeze-thaw cycles. Antibodies should not be exposed to prolonged high temperatures.