B9D1 Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Mar 2016]

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; cytosol

Molecular Function: hedgehog receptor activity

Biological Process: smoothened signaling pathway

Disease: Joubert Syndrome 27; Meckel Syndrome, Type 9