ACVRL1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ACVRL1 wild-type allele is located within 12q11-q14 and is approximately 14 kb in length. This allele, which encodes serine/threonine-protein kinase receptor R3 protein, is involved in receptor signal transduction. ACVRL1 deficiency causes hemorrhagic telangiectasia type 2, which is also also known as Rendu-Osler-Weber syndrome 2.

**Synonyms:** - ACVRL1 - ACVRLK1 - ALK-1 - ALK1 - Activin A Receptor, Type II-Like Kinase 1 wt Allele - Activin Receptor-Like Kinase 1 Gene - HHT - HHT2 - ORW2 - SKR3