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ALK2 / ACVR1
activin A receptor, type I
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.
| Gene Name: | activin A receptor, type I |
| Family/Subfamily: | Protein Kinase , Activin/TGFb |
| Synonyms: | ACVR1, Activin A receptor type I, Activin A receptor, type I, ACTR-I, ActRIA, ACVR1A, ALK2, Activin receptor-like kinase 2, Activin receptor type-1, ACTRI, ACVRLK2, ALK-2, Activin receptor type I, Actr1, FOP, Hydroxyalkyl-protein kinase, SKR1, TSRI, TSR-I, Tsk7L |
| Target Sequences: | NM_001105 NP_001096.1 Q04771 |
Publications (3)
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