ACVR1


Also found in: Dictionary, Thesaurus, Wikipedia.

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 ?
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.
Downregulation of ACVR1 for activin may result in loss of induction for smooth muscle cell differentiation, and thus is involved in plaque destabilization (Engelse et al.