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gene: ACVR1

id90
symbolACVR1
organismHomo sapiens
full nameactivin A receptor type 1
summaryActivins 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]
variant-disease

NM_001105.5(ACVR1):c.1067G>A (p.Gly356Asp) AND Progressive myositis ossificans

NM_001105.5(ACVR1):c.982G>A (p.Gly328Arg) AND Progressive myositis ossificans

NM_001105.5(ACVR1):c.270C>T (p.Ala90=) AND not specified

NM_001105.5(ACVR1):c.-196A>G AND Progressive myositis ossificans

NM_001105.5(ACVR1):c.270C>T (p.Ala90=) AND Progressive myositis ossificans

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