Transmembrane protein 67 (TMEM67)

Transmembrane protein 67 (TMEM67), also known as Meckelin, is a 995-amino acid, multi-pass transmembrane protein essential for the formation and function of primary cilia in mammalian cells[2][3][6]. It is a component of the tectonic-like complex, required for tissue-specific ciliogenesis and regulation of ciliary membrane composition[6]. TMEM67 is critical for centriole migration to the apical cell surface during early ciliogenesis, regulation of centrosome duplication, and the negative regulation of canonical Wnt signaling while activating non-canonical Wnt pathways (notably as a co-receptor for Wnt5A and ROR2)[2][4][1]. The protein has a complex structure with an extracellular cysteine-rich domain, a β sheet–rich region, seven transmembrane helices, and a cytosolic coiled-coil domain. Mutations in TMEM67 cause several ciliopathies, including Meckel syndrome type 3, Joubert syndrome type 6, and nephronophthisis, highlighting its essential role in human development and disease[1][3][6]. There is currently no evidence TMEM67 is directly targeted by any approved drugs[6].

Other names

MeckelinMKS3JBTS6NPHP11TMEM67TNEM67transmembrane protein 67