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ACVR1 activin A receptor type 1

Gene ID: 90, updated on 6-Sep-2021
Gene type: protein coding
Also known as: FOP; ALK2; SKR1; TSRI; ACTRI; ACVR1A; ACVRLK2

Summary

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. [provided by RefSeq, Jul 2008]

Genomic context

Location:
2q24.1
Sequence:
Chromosome: 2; NC_000002.12 (157736446..157876330, complement)
Total number of exons:
16

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