Function
disease:TMEM132E gene 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 [MIM:162200]. 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.,similarity:Belongs to the TMEM132 family.,
