Aliases for B9D1 Gene
External Ids for B9D1 Gene
Previous GeneCards Identifiers for B9D1 Gene
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]
GeneCards Summary for B9D1 Gene
B9D1 (B9 Protein Domain 1) is a Protein Coding gene. Diseases associated with B9D1 include meckel syndrome 9 and b9d1-related meckel syndrome. GO annotations related to this gene include hedgehog receptor activity. An important paralog of this gene is B9D2.
UniProtKB/Swiss-Prot for B9D1 Gene
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).