ACVR1B


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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.
References in periodicals archive ?
They discovered that four genes (named TENC1, ERBB3, ACVR1B, and DGKA) influence LDL levels.
From Table 3, in addition to TGF-131, the genes belong to TGF beta receptors, ACVR1B and TGFBR2, and co-activators, CREBBP, were up-regulated in NF3 treated fibroblast Hs27 cells.
ACVR1B (ALK4, activin receptor type 1B) gene mutations in pancreatic carcinoma.