ACVR1 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]

ACVR1 Details

Gene Symbol : ACVR1

Gene Name : Activin A receptor type 1

Chromosome : CHR 2: 157,875,879-157,736,445

Locus : 2q24.1

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CCDC148 Details

Gene Symbol : CCDC148

Gene Name : Coiled-coil domain containing 148

Chromosome : CHR 2: 158,456,752-158,171,355

Locus : 2q24.1

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