Rabbit anti-Human B9D1 Polyclonal Antibody | anti-B9D1 antibody
B9D1 Antibody
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Aug 2011]
Uniprot Description
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. Defects in B9D1 are the cause of Meckel syndrome type 9 (MKS9). A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Belongs to the B9D family. 2 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 17p11.2
Cellular Component: centrosome; membrane; cytosol
Molecular Function: hedgehog receptor activity
Biological Process: smoothened signaling pathway; camera-type eye development; regulation of protein localization; vasculature development; in utero embryonic development; organelle organization and biogenesis; cilium biogenesis; embryonic digit morphogenesis
Disease: Meckel Syndrome, Type 9