Gene Data From HGNC: https://www.genenames.org/download/statistics-and-files/
Symbol:
ACVRL1
Name:
activin A receptor like type 1
Location:
12q13.13
Locus Group:
protein-coding gene
Gene Type:
Protein Coding
Locus Type:
gene with protein product
DrugMatrix Data: https://cebs.niehs.nih.gov/cebs/paper/15670
DrugMatrix Gene Data For: 1 Matched Gene
Gene Name: activin A receptor type II-like 1
Symbol:
Description: 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).
