Entrez gene ID | | 94 |
Official gene symbol | | ACVRL1 |
Full name | | activin A receptor type II-like 1 |
Aliases | | ,ACVRLK1,ALK-1,ALK1,HHT,HHT2,ORW2,SKR3,TSR-I, |
Gene 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] |
Location | | Chromosome: 12 Locus: 12q11-q14 |
Gene position | | 52301202 - 52317145 Map Viewer |
Gene orientation | | plus |
Gene size | | 15944 bp |
Gene sequence |
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OMIM ID | | 601284 |
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