靶标:
DYM
产品别名:
DMC; SMC; DYM; dymeclin; dymeclin; dymeclin; dyggve-Melchior-Clausen syndrome protein; 迪格弗-梅尔基奥尔-克劳森综合征相关蛋白; 迪格弗梅尔基奥尔克劳森综合征蛋白(DYM);
背景信息:
This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. [provided by RefSeq, Jul 2008],