Transmembrane Protein 132E (TMEM132E)

TMEM132E is identified as one gene located in a region involved in a heterozygous deletion of approximately 4.7 Mb; this deletion, involving the NF1 gene and contiguous genes lying in its flanking regions, is observed in one patient with NF1 and 17q11.2 microdeletion syndrome. The NF1 microdeletion syndrome is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. Indeed, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, and an excessive number of neurofibromas.A transmembrane protein is a polytopic protein that spans an entire biological membrane. Transmembrane proteins aggregate and precipitate in water. They require detergents or nonpolar solvents for extraction, although some of them (beta-barrels) can be also extracted using denaturing agents.