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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ACVRL1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID94
Official gene symbolACVRL1
Full nameactivin A receptor type II-like 1
Aliases,ACVRLK1,ALK-1,ALK1,HHT,HHT2,ORW2,SKR3,TSR-I,
Gene summaryThis 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]
LocationChromosome: 12   Locus: 12q11-q14
Gene position52301202 - 52317145  Map Viewer
Gene orientationplus
Gene size15944 bp
Gene sequence
OMIM ID601284