巴尔得-别德尔综合征相关蛋白2抗体
规格：1尘驳/1尘濒
英文名： BBS2
别名： Bardet Biedl syndrome 2; Bardet Biedl syndrome 2 protein; BBS; MGC20703; BBS2_HUMAN.
分子量： 80kDa
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 BBS2
交叉反应：Human, Mouse, Rat, Chicken, Dog, Horse, Rabbit, Sheep,
细胞定位：细胞浆
巴尔得-别德尔综合征相关蛋白2抗体产物介绍：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 巴尔得-别德尔综合征相关蛋白2抗体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.巴尔得-别德尔综合征相关蛋白2抗体 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.
巴尔得-别德尔综合征相关蛋白2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：肿瘤 神经生物学 ***病
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid