ACVR1


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ACVR1

A gene on chromosome 2q23-q24 that encodes activin receptor type I, a receptor that forms a complex with other type-I and two type-II transmembrane serine/threonine kinase receptors for activin, a dimeric growth and differentiating factor belonging to the TGF-beta superfamily of structurally related signalling proteins. Type-II receptors phosphorylate and activate type-I receptors, which autophosphorylate, then bind and activate SMAD transcriptional regulators, playing roles in cell differentiation, growth arrest and apoptosis. 

Molecular pathology
ACVR1 mutations are linked to fibrodysplasia ossificans progressive.
References in periodicals archive ?
ICR's Prof Chris Jones said: "My lab found that mutations in the ACVR1 gene occur in a quarter of DIPG cancers.
ACVR1 is also involved in regulation of iron hemostasis, through stabilization of hepcidin and reduction of bioavailable iron, which is associated with anemia of chronic inflammation.
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat 2009;30:379-90.
The first four differentially expressed lncRNAs were upregulated in IDD, the second four differentially expressed lncRNAs were downregulated in IDD, and the third four differentially expressed genes were one lncRNA (PART1) and three mRNAs (ACVR1, E2F3, and VEGFA) in ceRNA network.
Genetic testing for ACVR1 mutation is definitive and available.
(2,3) FOP molecular investigations has revealed that most affected individuals have the same single nucleotide change 617G>A in the ACVR1 gene.
The single nucleotide polymorphism 617G>A in ACVR1 was analysed according to the method of Shore et al.
However, the concept of 1 specific mutation in ACVR1 is no longer tenable as evidenced by the reports associating 605G>T, 983G>A, 774G>C and 1067G>A with FOP in the absence of the recurrent 617G>A.
This concept could also argue for the involvement of mutations in ACVR1 receptor gene in other related disorders such as some forms of myositis.
Horigome et al., "Neofunction of ACVR1 in fibrodysplasia ossificans progressiva," Proceedings of the National Academy of Sciences of the United States of America, vol.
Classic FOP patients have mutation in heterozygous (c.617G> A, p.[R.sup.2]06H) in the ACVR1 gene.