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ACVRL1
activin A receptor type II-like 1
Activin A receptor, type II-like 1 (also called activin receptor-like kinase 1) is 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 protein (sometimes termed ALK1) shares similar domain structures with 3 other closely related ALK proteins (ALK2, ALK3, and ALK4) that together form a subfamily of receptor serine/threonine kinases. ACVRL1 is most highly expressed in human placenta and lung. ACVRL1 deficiency causes hemorrhagic telangiectasia type 2 (HHT2; MIM 600376) also known as Rendu-Osler-Weber syndrome 2 (ORW2).
| Gene Name: | activin A receptor type II-like 1 |
| Family/Subfamily: | Protein Kinase , Activin/TGFb |
| Synonyms: | ACVRL1, ALK1, Activin receptor-like kinase 1, ALK-1, ACVRLK1, HHT, HHT2, SKR3, TSR-I, ORW2 |
| Target Sequences: | NM_000020 NP_000011.2 P37023 |
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