| Entrez gene ID | | 90 |
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| Official gene symbol | | ACVR1 |
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| Full name | | activin A receptor, type I |
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| Aliases | | ,ACTRI,ACVR1A,ACVRLK2,ALK2,FOP,SKR1,TSRI, |
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| Gene 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] |
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| Location | | Chromosome: 2 Locus: 2q23-q24 |
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| Gene position | | 158732374 - 158592958 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 139417 bp |
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| Gene sequence |
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| OMIM ID | | 102576 |
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