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Activin A receptor, type I (ACVR1) belongs to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. ACVR1 signals a specific transcriptional response in concert with activin type II receptors. The ACVR1 gene encodes activin A type I receptor, which signals a particular transcriptional response in concert with activin type II receptors. Mutations in ACVR1 have been linked to Fibrodysplasia Ossificans Progressiva (FOP), a rare genetic disorder characterized by the formation of bone in muscles, tendons, and other connective tissues, as well as Epicanthus.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: activin A receptor type I; activin A receptor, type I; activin A receptor, type II-like kinase 2; Activin receptor type I; Activin receptor type-1; Activin receptor-like kinase 2; ACTR-I; ALK-2; hydroxyalkyl-protein kinase; Serine/threonine-protein kinase receptor R1; SKR1; TGF-B superfamily receptor type I; TSK-7L; TSR-I
基因别名: ActR-I; ACTRI; ActRIA; Acvr; ACVR1; ACVR1A; ACVRLK2; Alk-2; ALK2; Alk8; D330013D15Rik; FOP; SKR1; Tgfb1; Tsk7L; TSRI
UniProt ID: (Human) Q04771, (Mouse) Q91VF1
Entrez Gene ID: (Human) 90, (Mouse) 11477