Gene Symbol | ACVRL1 |
Entrez Gene ID | 94 |
Full Name | activin A receptor like type 1 |
Synonyms | ACVRLK1,ALK-1,ALK1,HHT,HHT2,ORW2,SKR3,TSR-I |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3) |