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重组骨形态发生蛋白受体1B
本产品不向个人销售,仅用作科学研究,不用于任何人体实验及非科研性质的动物实验。

产品名称
重组骨成型蛋白受体1B(BMPR1B)
Recombinant BMPR1B
产品介绍
基因名:

BMPR1B


产品别名:

ALK-6; ALK6; AMD3; AMDD; BDA1D; BDA2; CDw293; BMPR1B; bone morphogenetic protein receptor type 1B; bone morphogenetic protein receptor type 1B; bone morphogenetic protein receptor type-1B; BMP type-1B receptor; BMPR-1B; activin receptor-like kinase 6; bone morphogenetic protein receptor, type IB; serine/threonine receptor kinase; 骨形态发生蛋白受体1B; 骨成型蛋白受体1B(BMPR1B);


背景信息:
On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5.
Involvement in disease; Defects in BMPR1B are the cause of acromesomelic chondrodysplasia with genital anomalies (AMDGA). 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).
Defects in BMPR1B 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. BDA2 was described first in a large Norwegian kindred. BDA2 is caused by mutations in BMPR1B gene and studies demonstrate that these mutations function as dominant negatives in vitro and in vivo.

标签:His-tag   
分类:Recombinant  
类型:Protein   
偶联物:Unconjugated
内毒素水平:按批次,参阅瓶身标签
性状:Liquid
浓度:Batch dependent (Please refer to the vial label for the specific concentration.)
纯化类型:purified
内含物:不含防腐剂
应用:Positive Control;Immunogen;SDS-PAGE;WB.
储存:2-8°C不超过一个月,-80°C不超过12个月。避免反复冻融。
注意事项:仅供实验室使用。不适用于人类或动物的任何临床,治疗或诊断用途。不适合动物或人类食用。