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]

基因名:ACVR1B
别名:ALK4,SKR2,ACTRIB,ACVRLK4
基因ID:91
Chromosome:
(GRCh37)
12 Start: 52345451 End: 52390863 Strand: 
信号通路: 细胞增殖  炎症相关 
ACVR1B 基因突变与药物

相关基因检测