Activin A receptor, type I (ACVR1) is a protein which in humans is encoded by the ACVR1 gene; it is also known as ALK-2 (activin receptor-like kinase-2). [5] ACVR1 has been linked to the 2q23-24 region of the genome. [6]

2024年12月24日 · ACVR1 (Activin A Receptor Type 1) is a Protein Coding gene. Diseases associated with ACVR1 include Fibrodysplasia Ossificans Progressiva and Epicanthus. Among its related pathways are Akt Signaling and NF-kappaB Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity.

The ACVR1 gene provides instructions for making the activin receptor type-1 (ACVR1) protein, which is a member of a protein family called bone morphogenetic protein (BMP) type I receptors. Learn about this gene and related health conditions.

2019年10月31日 · Activin A receptor type I (ACVR1) encodes for a bone morphogenetic protein type I receptor of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and …

2025年2月8日 · Pathogenic ACVR1(R206H) activation by Activin A-induced receptor clustering and autophosphorylation. ACVR1(R206H) extends inflammatory responses in human induced pluripotent stem cell-derived macrophages. Structural basis for ALK2/BMPR2 receptor complex signaling through kinase domain oligomerization.

Activin receptor type I (ACVR1) is a transmembrane kinase receptor belonging to bone morphogenic protein receptors (BMPs). ACVR1 plays an important role in hematopoiesis and anemia via the BMP6/ACVR1/SMAD pathway, which regulates expression of hepcidin, the master regulator of iron homeostasis.

The same antibodies could block heterotopic ossification (HO) in mice with wildtype Acvr1, but they exacerbated HO in a mouse model of FOP with a knockin R206H mutation in Acvr1 by activating signaling of the Acvr1 mutant.

ACVR1 encodes a type I BMP receptor that is expressed in chondrocytes and osteoblasts. You might find these chapters and articles relevant to this topic. ACVR1/ALK2 is one of four type I receptors that mediate signaling through BMPs [66–69].

2015年9月2日 · Fibrodysplasia ossificans progressiva (FOP) is a rare, but deadly, genetic condition that causes growth of bony structures in place of normally soft tissues such as muscle and ligaments. The causal mutation, in the bone morphogenetic protein receptor ACVR1, has been thought to boost the receptor’s activity, triggering inappropriate bone formation.

2019年10月31日 · Activin A receptor type I (ACVR1) encodes for a bone morphogenetic protein type I receptor of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and …