ACVR1

(redirected from ALK2)
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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 ?
More on FOP Disease - While providing information about FOP, La Jolla said that FOP is a rare genetic disorder caused by a genetic mutation in ALK2, where the body turns muscle into bone.
Therefore, we investigated whether the commonly reported ACVR1/ ALK2 617G>A recurrent mutation also causes FOP in indigenous South Africans.
By extrapolation, mutations within the ACVR1/ALK2 receptor gene that cause variable ACVR1/ ALK2 receptor activity could also lead to different phenotypes, depending on the sensitivities of the domains in which they occur.
21) Shiota et al (27) first reported that ALK+ systemic ALCLs benefit more from chemotherapy than ALK2 forms and have a better 5-year survival.