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ACVRL1 (基因名), Serine/threonine-protein kinase receptor R3 (蛋白名), acvl1_human.
产品名称:

Human ACVRL1/ Serine/threonine-protein kinase receptor R3 Recombinant Protein
丝氨酸/苏氨酸蛋白激酶受体R3

货号:

R1901h

商标:
EIAab®
监管等级:
别名:

Activin receptor-like kinase 1, TGF-B superfamily receptor type I, ALK-1, TSR-I, SKR3, ACVRLK1, ALK1

序列号:
P37023
来源:
E.coli
种属:
Human
标签:
His
纯度:
>90% by SDS-PAGE
浓度:
Reconstitution Dependent
形态:
Liquid
内毒素水平:
Please contact protein@eiaab.com The technician for more information.
应用:
存储缓冲液:
50mM NaH2PO4, 500mM NaCl Buffer with 500mM Imidazole, 10%glycerol(PH8.0)
存储:
Store at -20°C. (Avoid repeated freezing and thawing.)
研究领域:
Cell Biology
Human ACVRL1 Protein
规格 & 价格: cart
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Human ACVRL1 Protein
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产品说明书
说明书: 下载说明书
MSDS: MSDS
在线询价


R&D 技术数据
更多信息,请参阅手册,或联系我们的技术支持: tech@eiaab.com.
基因位点
Cytogenetic band: 12q13.13 by HGNC 12q13.13 by Entrez Gene 12q13.13 by Ensembl
ACVRL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
基因位点
通用注释


亚单元:
N/A


功能:
Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. 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. May bind activin as well.


亚细胞位置:
Cell membrane Single-pass type I membrane protein


该产品尚未在任何出版物中被引用。

[1].
"Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype."

[2].
"Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2."

[3].
"Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity."

[4].
"Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex."

[5].
"Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation."

[6].
"Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique."

[7].
"Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia."

[8].
"Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease."

[9].
"Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers."

[10].
"Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia."
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