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. [provided by RefSeq, Mar 2016]
GeneCards Summary for B9D1 Gene
B9D1 (B9 Domain Containing 1) is a Protein Coding gene. Diseases associated with B9D1 include Joubert Syndrome 27 and Meckel Syndrome, Type 9. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (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).