FITC标记的迪格弗-梅尔基奥尔-克劳森综合征相关蛋白抗体
产品名称： FITC标记的迪格弗-梅尔基奥尔-克劳森综合征相关蛋白抗体
英文名称： Anti-Dymeclin/FITC
产品编号： HZ-13037R-FITC
产品价格： null
产品产地： 中国/上海
品牌商标： HZbscience
更新时间： 2023-08-17T10:24:20
使用范围： ICC=1:50-200 IF=1:50-200
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Rabbit Anti-Dymeclin/FITC Conjugated antibody
FITC标记的迪格弗-梅尔基奥尔-克劳森综合征相关蛋白抗体
| 英文名称 | Anti-Dymeclin/FITC |
| 中文名称 | FITC标记的迪格弗-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. |
| 规格价格 | 100ul/2980元 购买 大包装/询价 |
| 说 明 书 | 100ul |
| 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 | ICC=1:50-200 IF=1:50-200 not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 分 子 量 | 76kDa |
| 性 状 | Lyophilized or Liquid |
| 浓 度 | 1mg/ml |
| 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. |
| 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. 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, 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: Entrez Gene: 54808 Human
Omim: 607461 Human SwissProt: Q7RTS9 Human Unigene: 162996 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications |
dyggve梅尔基奥尔-克劳森（DMC）综合征-罕见的隐性疾病，是由该模式的autosomal，microcephaly短主干，dwarfism和sometime psychomotor retardation。皮肤细胞的影响individuals秀dilated粗内质网和vacuoles扩大。dyggve梅尔基奥尔-克劳森综合征-茶叶蛋白，也可能在dymeclin播放主要角色，蛋白多糖和蛋白质代谢intracellular消解。它是广泛表达的膜蛋白的多通，detected primarily fetal脑组织和软骨细胞。在dymeclin are also the缺陷原因mccort发育不良综合征-史密斯学院（CMS），which has to特点identical of dyggve梅尔基奥尔-克劳森的那些症状。