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.

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.

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 …

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 salutary effect of momelotinib on anemia has been attributed to inhibition of activin A receptor, type 1 (ACVR1) and recent information suggests a similar effect from pacritinib. ACRV1 mediates SMAD2/3 signaling which contributes to upregulation of hepcidin production and iron-restricted erythropoiesis.

2023年11月25日 · We identified activin A receptor type I (ACVR1), a member of the TGF-β superfamily, as a factor favoring acute myeloid leukemia (AML) growth and a new potential therapeutic target. ACVR1 is...

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.

In this article, we present a speculative analysis of two aspects of the FOP pathogenesis related to the ACVR1 mutation itself: (a) why a single mutation has such a high prevalence in FOP patients; and (b) how the expression of ACVR1 can be modulated by cis -acting variants in the surrounding genomic region of the gene in human chromosome 2q, th...