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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 1; activin A receptor, type I; Activin receptor type I; Activin receptor type-1; Type I TGF B receptor
基因别名: ACVR1; ALK2
UniProt ID: (Chicken) Q90ZK6
Entrez Gene ID: (Chicken) 395246