ACVR1B

这个基因编码激活素A型IB受体。激活素是二聚体生长和分化因子，属于结构相关信号蛋白转化生长因子β（tgfβ）超家族。激活素通过受体丝氨酸激酶的异聚复合物发出信号，该异聚复合物至少包括两个I型和两个II型受体。这种蛋白质是一种I型受体，对信号传导至关重要。这个基因的突变与垂体瘤有关。交替剪接导致多个转录变体。[由RefSeq提供，2010年6月]
This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]