anticorps Gm644, anticorps transmembrane protein 132E, anticorps TMEM132E, anticorps Tmem132e
Sujet
Transmembrane protein 132E (TMEM132E) also known as HSPA5-binding protein 1, is a member of the TMEM132 family, which composed of TMEM132A, -B, -C, -D, -E. It is 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 a patient 17q11.2 microdeletion syndrome, a syndrome characterized by variable facial dysmorphism, mental retardation, developmental delay, and an excessive number of neurofibromas.