迪格弗-梅尔基奥尔-克劳森综合征相关蛋白抗体
规格：1尘驳/1尘濒
英文名： Dymeclin
别名： DMC; Dyggve-Melchior-Clausen syndrome protein; DYM; FLJ20071; FLJ90130; SMC; DYM_HUMAN.
分子量： 76kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Dymeclin
交叉反应：Human, Mouse, Rat, Dog, Cow, Horse, Sheep,
细胞定位：细胞浆
迪格弗-梅尔基奥尔-克劳森综合征相关蛋白抗体产物介绍：background: Dyggve-Melchior-Clausen syndrome (DMC), a rare autosomal recessive disorder, is characterized by microcephaly, short trunk dwarfism and sometime psychomotor retardation. Cutaneous cells of affected individuals show dilated rough endoplasmic reticulum and enlarged vacuoles. The Dyggve-Melchior-Clausen syndrome protein, also designated dymeclin, may play a role in proteoglycan metabolism and intracellular protein digestion. It is a widely expressed multi-pass membrane protein, detected primarily in chondrocytes and fetal brain tissue. Defects in dymeclin are also the cause of Smith-McCort dysplasis syndrome (SMC), which has characteristics identical to those of Dyggve-Melchior-Clausen syndrome. Function: Necessary for correct organization of Golgi apparatus. Involved in bone development. Subunit: Interacts with GOLM1 and PPIB. Subcellular Location: Cytoplasmic and Golgi Apparatus Tissue Specificity: Expressed in迪格弗-梅尔基奥尔-克劳森综合征相关蛋白抗体 most embryo-fetal and tissues. Abundant in primary chondrocytes, osteoblasts, cerebellum, kidney, lung, stomach, heart, pancreas and fetal brain. Very low or no expression in the spleen, thymus, esophagus, bladder and thyroid gland. Post-translational modifications: Myristoylated in vitro; myristoylation is not essential for protein targeting to Golgi compartment. DISEASE: Defects in DYM are the cause of Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800]. DMC is a rare autosomal recessive disorder characterized by short trunk dwarfism, 迪格弗-梅尔基奥尔-克劳森综合征相关蛋白抗体microcephaly and psychomotor retardation. Electron microscopic study of cutaneous cells of affected patients shows dilated rough endoplasmic reticulum, enlarged and aberrant vacuoles and numerous vesicles. DMC is progressive. Defects in DYM are the cause of Smith-McCort dysplasia (SMC) [MIM:607326]. SMC is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen syndrome. Similarity: Belongs to the dymeclin family. Database links: UniProtKB/Swiss-Prot: Q7RTS9.1 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
迪格弗-梅尔基奥尔-克劳森综合征相关蛋白抗体产物应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 发育生物学 信号转导
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid