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ACVRL1
Serine/threonine-protein kinase receptor R3 is an enzyme that in humans is encoded by the ''ACVRL1'' gene.〔 ACVRL1 is a receptor in the TGF beta signaling pathway. It is also known as activin receptor-like kinase 1, or ALK1.
==Pathology== Germline mutations of ACVRL1 are associated with: * hereditary hemorrhagic telangiectasia type 2 (Rendu-Osler-Weber syndrome 2) * Pulmonary arteriovenous malformations Somatic mosaicism in ACVRL1 are associated with severe pulmonary arterial hypertension.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「ACVRL1」の詳細全文を読む
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