Disease-gene associations mined from literature

Literature associating ACVR1 and fibrodysplasia ossificans progressiva

ACVR1 [ENSP00000263640]

Serine/threonine-protein kinase receptor R1; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis (By similarity).

Synonyms:  ACVR1,  ACVR1p,  hACVR1,  C9J1R3,  C9JHJ7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM