Health / Medical Topics

    ACVRL1 wt Allele

    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. (NCI Thesaurus)




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