激活素是属于结构相关信号蛋白转化生长因子β(TGFβ)超家族的二聚生长和分化因子。激活素通过受体丝氨酸激酶的异聚体复合物传递信号,该复合物包括至少两个I型(I和IB)和两个II型(II和IIB)受体。这些受体都是跨膜蛋白,由一个与富含半胱氨酸区域结合的配体胞外结构域、一个跨膜结构域和一个具有预测丝氨酸/苏氨酸特异性的胞质结构域组成。I型受体对于信号传导是必需的;II型受体对于结合配体和I型受体的表达是必需的。I型和II型受体在配体结合后形成稳定的复合物,导致I型受体被II型受体磷酸化。这个基因编码一个活化素I型受体,它与活化素II型受体一起发出特定的转录反应信号。该基因突变与进行性纤维发育异常骨化相关。
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 ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive.

基因名:ACVR1
别名:ACTRI,ACVR1A,ACVRLK2,ALK2,FOP,SKR1,TSRI
基因ID:90
Chromosome:
(GRCh37)
2 Start: 158592958 End: 158732374 Strand: -1
信号通路:  
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