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ALK-1/ACVRL1  Protein, Antibody, ELISA Kit, cDNA Clone

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Expression host: Human Cells  
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10066-H02H-100
10066-H02H-200
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Description: Active  
Expression host: Human Cells  
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10066-H08H-100
10066-H08H-200
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Description: Active  
Expression host: Human Cells  
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50208-M03H-100
50208-M03H-200
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Description: Active  
Expression host: Human Cells  
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10596-R03H-100
10596-R03H-200
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Expression host: Human Cells  
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90060-C08H-100
90060-C08H-20
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20 µg 
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Description: Active  
Expression host: Human Cells  
  • Slide 1
90060-C02H-100
90060-C02H-200
100 µg 
200 µg 
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Expression host: Human Cells  
  • Slide 1
70049-D02H-100
70049-D02H-200
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200 µg 
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ALK-1/ACVRL1 Related Pathways

    ALK-1/ACVRL1 Related Protein, Antibody, cDNA Gene, and ELISA Kits

    ALK-1/ACVRL1 Related Protein, Antibody, cDNA Gene, and ELISA Kits

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    ALK-1/ACVRL1 Summary & Protein Information

    ALK-1/ACVRL1 Background

    Gene Summary: ACVRL1 gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in ACVRL1 gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
    General information above from NCBI
    Catalytic activity: ATP + [receptor-protein] = ADP + [receptor- protein] phosphate.
    Cofactor: Magnesium or manganese (By similarity).
    Subcellular location: Membrane; Single-pass type I membrane protein.
    Involvement in disease: Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]: Autosomal dominant multisystemic vascular dysplasia, characterized by recurrent epistaxis, muco-cutaneous telangiectases, gastro-intestinal hemorrhage, and pulmonary, cerebral and hepatic arteriovenous malformations; all secondary manifestations of the underlying vascular dysplasia. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Sequence similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
    Contains 1 GS domain.
    Contains 1 protein kinase domain.
    General information above from UniProt

    Activin A receptor, type II-like 1 (ACVRL1), also known as ALK-1 (activin receptor-like kinase 1), is an endothelial-specific type I receptor of the TGF-beta (transforming growth factor beta) receptor family of ligands. On ligand binding, a heteromeric receptor complex forms consisting of two type II and two type I transmembrane serine/threonine kinases. ACVRL1 protein is expressed in certain blood vessels of kidney, spleen, heart and intestine, serving as an important role during vascular development. Mutations in ACVRL1 gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2 and vascular disease.

    ALK-1/ACVRL1 Alternative Name

    ALK-1/ACVRL1 Related Studies

  • French Rendu-Osler network,et al. (2004) Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat. 23(4): 289-299.
  • Simon M, et al. (2006) Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system. J Neurosurg. 104(6): 945-9.
  • Argyriou L, et al. (2006) Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia. Int J Mol Med. 17(4):655-9.
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