FITC标记的软骨衍生形态发生蛋白1/GDF 5抗体
产品名称： FITC标记的软骨衍生形态发生蛋白1/GDF 5抗体
英文名称： Anti-CDMP1/FITC
产品编号： HZ-6580R-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：
上海沪震实业有限公司
- 联系人 : 鲍丽雯
- 地址 : 上海市闵行区闵北路88弄1-30号第22幢AQ136室
- 邮编 : 200612
- 所在区域 : 上海
- 电话 : 139****0749
- 传真 : 021-60345367
- 邮箱 : www.shzbio.net
Rabbit Anti-CDMP1/FITC Conjugated antibody
FITC标记的软骨衍生形态发生蛋白1/GDF 5抗体
| 英文名称 | Anti-CDMP1/FITC |
| 中文名称 | FITC标记的软骨衍生形态发生蛋白1/GDF 5抗体 |
| 别 名 | Cartilage derived morphogenetic protein 1; Cartilage-derived morphogenetic protein 1; CDMP-1; CDMP1; GDF-5; Gdf 5; GDF5_HUMAN; Growth differentiation factor 5; Growth/differentiation factor 5; LAP4; Radotermin. |
| 规格价格 | 100ul/2980元 购买 大包装/询价 |
| 说 明 书 | 100ul |
| 研究领域 | 心血管 细胞生物 信号转导 干细胞 生长因子和激素 转录调节因子 |
| 抗体来源 | Rabbit |
| 克隆类型 | Polyclonal |
| 交叉反应 | Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, |
| 产品应用 | not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 分 子 量 | 55kDa |
| 性 状 | Lyophilized or Liquid |
| 浓 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human CDMP1/GDF5 |
| 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: Defects in GDF5 are the cause of acromesomelic chondrodysplasia Grebe type (AMDG) . Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs, and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDG is an autosomal recessive form characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet. Defects in GDF5 are the cause of acromesomelic chondrodysplasia Hunter-Thompson type (AMDH). AMDH is an autosomal recessive form of dwarfism. Patients have limb abnormalities, with the middle and distal segments being most affected and the lower limbs more affected than the upper. AMDH is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet. Defects in GDF5 are the cause of brachydactyly type C (BDC). BDC is an autosomal dominant disorder characterized by an abnormal shortness of the fingers and toes. Function: Could be involved in bone and cartilage formation. Chondrogenic signaling is mediated by the high-affinity receptor BMPR1B. Subunit: Homodimer; disulfide-linked (By similarity). Subcellular Location: Secreted. Tissue Specificity: Predominantly expressed in long bones during embryonic development. DISEASE: Defects in GDF5 are the cause of acromesomelic chondrodysplasia Grebe type (AMDG) [MIM:200700]. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs, and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDG is an autosomal recessive form characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet. Defects in GDF5 are the cause of acromesomelic chondrodysplasia Hunter-Thompson type (AMDH) [MIM:201250]. AMDH is an autosomal recessive form of dwarfism. Patients have limb abnormalities, with the middle and distal segments being most affected and the lower limbs more affected than the upper. AMDH is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet. Defects in GDF5 are the cause of brachydactyly type C (BDC) [MIM:113100]. BDC is an autosomal dominant disorder characterized by an abnormal shortness of the fingers and toes. Defects in GDF5 are the cause of Du Pan syndrome (DPS) [MIM:228900]; also known as fibular hypoplasia and complex brachydactyly. Du Pan syndrome is a rare autosomal recessive condition characterized by absence of the fibulae and severe acromesomelic limb shortening with small, non-functional toes. Although milder, the phenotype resembles the autosomal recessive Hunter-Thompson and Grebe types of acromesomelic chondrodysplasia. Defects in GDF5 are a cause of symphalangism proximal syndrome (SYM1) [MIM:185800]. SYM1 is characterized by the hereditary absence of the proximal interphalangeal (PIP) joints (Cushing symphalangism). Severity of PIP joint involvement diminishes towards the radial side. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conducive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone. Defects in GDF5 are the cause of multiple synostoses syndrome type 2 (SYNS2) [MIM:610017]. Multiple synostoses syndrome is an autosomal dominant condition characterized by progressive joint fusions of the fingers, wrists, ankles and cervical spine, characteristic facies and progressive conductive deafness. Defects in GDF5 are a cause of brachydactyly type A2 (BDA2) [MIM:112600]. Brachydactylies (BDs) are a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. They have been classified on an anatomic and genetic basis into five groups, A to E, including three subgroups (A1 to A3) that usually manifest as autosomal dominant traits. Genetic variations in GDF5 are associated with susceptibility to osteoarthritis type 5 (OS5) [MIM:612400]. Osteoarthritis is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. Defects in GDF5 may be a cause of brachydactyly type A1 (BDA1) [MIM:112500]. Brachydactylies (BDs) are a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. They have been classified on an anatomic and genetic basis into five groups, A to E, including three subgroups (A1 to A3) that usually manifest as autosomal dominant traits. Similarity: Belongs to the TGF-beta family. Database links: Entrez Gene: 8200 Human Entrez Gene: 14563 Mouse Omim: 601146 Human SwissProt: P43026 Human SwissProt: P43027 Mouse Unigene: 1573 Human Unigene: 4744 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications |
GDF5中的缺陷是肢端肥大症软骨发育不良型（AMDG）的原因。肢端肥大症软骨发育异常是罕见的遗传性骨骼疾病，其特征是身材矮小、四肢非常短，以及手足畸形。肢体异常的严重程度从近端到远端增加，深部受影响的手和脚显示短指和/或不成熟的手指（旋钮状指）。AMDG是一种常染色体隐性形式，其特征是正常的轴向骨骼和手脚中缺失或融合的骨骼元件。GDF5中的缺陷是肢端肥大症-软骨发育不良-亨特-汤普森型（AMDH）的原因。AMDH是一种常染色体隐性遗传的侏儒症。患者肢体异常，其中中段和远端段受影响最大，下肢比上肢受影响更大。AMDH的特点是正常的轴向骨骼和丢失或融合的骨骼元素在手和脚。GDF5的缺陷是短指型C（BDC）的原因。BDC是一种常染色体显性遗传疾病，其特征是手指和脚趾异常短小。