ACVR1(redirected from ALK-2)
ACVR1A 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.
ACVR1 mutations are linked to fibrodysplasia ossificans progressive.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.