ACVRL1 wt Allele
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ACVRL1 Gene -> ACVRL1 wt Allele
ACVRL1 wt Allele 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.
ACVRL1 wt Allele Synonyms
ACVRL1 wt Allele, 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
Terms in ACVRL1 wt Allele category
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