Reagents, Molecular Assay, Gene Anomaly, Mutation, ACVRL1
Definition : Molecular assay reagents intended to identify mutations in the activin A receptor type II-like 1 (ACVRL1) gene, located at chromosome 12q11-q14, which encodes for activin receptor-like kinase-1, a protein found on cell surfaces that acts as a receptor serine/threonine kinase. These receptors bind transforming growth factor beta (TGF-beta) and, possibly, activin. Mutations at this locus have been identified in patients with hereditary hemorrhagic telangiectasia type 2 (HHT2), also known as Osler-Rendu-Weber syndrome (ORW2).
Entry Terms : "ACVRL1-Related Hereditary Hemorrhagic Telangiectasia Gene Mutation Detection Reagents" , "Hereditary Hemorrhagic Telangiectasia Type 2 (HHT2) Gene Mutation Detection Reagents" , "Osler-Rendu-Weber Syndrome Type 1 Gene Mutation Detection Reagents" , "ACVRL1 Gene Mutation Detection Reagents"
UMDC code : 24281