Transmembrane protein 231 (TMEM231)

Transmembrane protein 231 (TMEM231) is a two-pass transmembrane protein and a critical component of the B9 complex, localized at the transition zone at the base of the ciliary axoneme[1][3]. The B9 complex acts as a barrier controlling protein diffusion between the cilia and plasma membrane, and is essential for proper ciliogenesis and sonic hedgehog (SHH) signaling[1][3]. TMEM231 is necessary for compartmentalization of cilia and the formation of the diffusion barrier, impacting development and organ function. Mutations in TMEM231 have been causally linked to ciliopathies such as Joubert syndrome (JBTS), Meckel–Gruber syndrome (MKS), and oral–facial–digital syndrome (OFDS); these are rare, genetically heterogeneous, often severe developmental disorders characterized by brain, kidney, and limb malformations[1][3]. No drugs or therapeutics directly targeting TMEM231 are currently known, and TMEM231 is not considered a therapeutic target such as a receptor, enzyme, or transporter[3].

Other names

TMEM231UNQ870/PRO1886FLJ22167ALYE870PRO1886JBTS20MKS11