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ACVRL1 (GeneName), Serine/threonine-protein kinase receptor R3 (ProteinName), ACVL1_HUMAN.
Product Name:

Human ACVRL1/ Serine/threonine-protein kinase receptor R3 ELISA Kit

Cat.#:

E1901h

Brand:
EIAab®
Regulatory Status:
Alternative:

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

Detection Method:
ELISA
Assay Type:
Sandwich
Detection Range:
78-5000pg/mL
Sensitivity:
39pg/mL
Specificity:
Natural and recombinant human Serine/threonine-protein kinase receptor R3
Sample Type:
Serum, plasma, tissue homogenates, cell culture supernates and other biological fluids
Sample Data:
Assay Procedure:
Assay Procedure
Research Area:
Cell Biology
Human ACVRL1 ELISA Kit
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Human ACVRL1 ELISA Kit
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Product Datasheets
Instruction: Down Instruction
MSDS: MSDS


General Annotation


Sub Unit:
N/A


Function:
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.


Subcellular Location:
Cell membrane Single-pass type I membrane protein


This product has not yet been referenced specifically in any publications.

[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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