Transmembrane protein 237 (TMEM237)

Transmembrane protein 237 (TMEM237) is a tetraspanin transmembrane protein that localizes to the ciliary transition zone (TZ), a key compartment at the base of primary cilia in eukaryotic cells[2][3][4][5]. TMEM237 is essential for the formation and maintenance of primary cilia, acting as part of a conserved module of transition zone proteins that regulate the structure and signaling capacity of this organelle[2][4]. Defects or mutations in TMEM237 cause Joubert syndrome 14 (JBTS14) and are implicated in other Joubert syndrome–related disorders due to disrupted ciliogenesis and deregulation of the Wnt signaling pathway[2][3][4]. TMEM237 also interacts with the intestinal riboflavin transporter RFVT-3, influencing the absorption and stability of vitamin B2 in intestinal epithelial cells, and its expression responds to inflammation and nutrient signaling[1][2]. TMEM237 is not a classical receptor, drug target, or enzyme; instead, it is a structural and regulatory ciliary protein with no currently identified direct drug interactions or use as a biomarker or therapeutic target for disease treatment.

Other names

ALS2CR4JBTS14Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4amyotrophic lateral sclerosis 2 (juvenile) chromosome region candidate 4ALS2CR4 proteinJBTS14 protein