Anti-Dymeclin抗体Dyggve-Melchior-Clausen syndrome （DMC）, a rare autosomal recessive disorder, is characterized by microcephaly,

产品编号 yb-13037R
英文名称 Anti-Dymeclin抗体
中文名称 迪格弗-梅尔基奥尔-克劳森综合征相关蛋白抗体
别    名 DMC; Dyggve-Melchior-Clausen syndrome protein; DYM; FLJ20071; FLJ90130; SMC; DYM_HUMAN.
Anti-Dymeclin抗体  
说 明 书 0.1ml  0.2ml  
研究领域 细胞生物  发育生物学  信号转导  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Dog, Cow, Horse, Sheep, 
产品应用 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.
分 子 量 76kDa
细胞定位 细胞浆 
性    状 Lyophilized or Liquid
浓    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human Dymeclin
亚    型 IgG
纯化方法 affinity purified by Protein A
储 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

PubMed PubMed
产品介绍 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 most embryo-fetal and adult 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.