ACVR1B


ACVR1B

A gene on chromosome 12q13 that encodes activin receptor type IB, 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
ACVR1B mutations are associated with pituitary tumours.