B9D1 Antibody
Rabbit Polyclonal
$50.00 to US & $70.00 to Canada for most products. Final costs are calculated at checkout.
Background
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.
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