This 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 this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ACVRL1-20-RE | 20 (40 μL) | 200 μL |  |
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| ACVRL1-20-OR | 20 (40 μL) | 200 μL |  |
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| ACVRL1-20-GO | 20 (40 μL) | 200 μL |  |
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| ACVRL1-20-GR | 20 (40 μL) | 200 μL |  |
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| ACVRL1-20-AQ | 20 (40 μL) | 200 μL |  |
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This 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 this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
Gene Symbol : ACVRL1
Gene Name : Activin A receptor like type 1
Chromosome : CHR 12: 519,069,12-519,233,60
Locus : 12q13.13
Alt. Genes : FAM13A
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