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货号： bs-11506R-AP 基本售价： 2980.0 元 规格： 100ul
产品信息
- 产品编号
- bs-11506R-AP
- 英文名称
- Anti-BBS2/AP
- 中文名称
- 碱性磷酸酶（AP）标记的巴尔得-别德尔综合征相关蛋白2抗体
- 别 名
- Bardet Biedl syndrome 2; Bardet Biedl syndrome 2 protein; BBS; MGC20703; BBS2_HUMAN.
- 规格价格
- 100ul/2980元购买 大包装/询价
- 说 明 书
- 100ul
- 研究领域
- 肿瘤 神经生物学 内分泌病
- 抗体来源
- Rabbit
- 克隆类型
- Polyclonal
- 交叉反应
- Human, Mouse, Rat, Chicken, Dog, Horse, Rabbit, Sheep,
- 产品应用
- WB=1:50-200 IHC-P=1:50-200 IHC-F=1:50-200 ICC=1:50-200
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
- 分 子 量
- 80kDa
- 性 状
- Lyophilized or Liquid
- 浓 度
- 1mg/ml
- 免 疫 原
- KLH conjugated synthetic peptide derived from human BBS2
- 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:
Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterized by obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. Other associated clinical findings in BBS patients include diabetes, hypertension, and congenital heart defects. BBS is a heterogeneous disorder that maps to eight genetic loci and encodes eight proteins, BBS1-BBS8. Five BBS genes encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS2 is a 721-amino acid protein that is evolutionarily conserved and is expressed in a broad range of tissues including: brain, kidney, adrenal gland, and thyroid gland. Loss of BBS2 may be involved in defects in social interactions as well as infertility. BBS2 retinopathy involves normal retina development followed by apoptotic death of photoreceptors, the primary ciliated cells of the retina.
Function:
Defects in BBS2 are the cause of Bardet-Biedl syndrome type 2. Bardet-Biedl syndrome is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation.
Subunit:
Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin. Interacts (via C-terminus) with BBS7. Interacts (via coiled coil domain) with MKKS. Interacts with CCDC28B.
Subcellular Location:
Cytoplasmic
Tissue Specificity:
Widely expressed.
DISEASE:
Defects in BBS2 are the cause of Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect.
Database links:
UniProtKB/Swiss-Prot: Q9BXC9.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.