External Ids for TMEM231 Gene
This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
GeneCards Summary for TMEM231 Gene
TMEM231 (Transmembrane Protein 231) is a Protein Coding gene. Diseases associated with TMEM231 include joubert syndrome 20 and meckel syndrome, type 11. An important paralog of this gene is ENSG00000260092.
UniProtKB/Swiss-Prot for TMEM231 Gene
Transmembrane 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).