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Symbol ACVR1 contributors: shn/npt/pgu - updated : 03-04-2018
HGNC name activin A receptor, type I
HGNC id 171
corresponding disease(s) FOP
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
epiblast-specific deletion of ACVR1 compromised potentially development of nodal cilia, which results in defects in leftward fluid flow and, thus, abnormalities in left-right patterning
constitutional     --low  
loss of ACVR1 in osteoblasts increases bone density
tumoral germinal mutation     gain of function
in Diffuse Intrinsic Pontine Gliomas (DIPGs)
Susceptibility to orofacial cleft
Variant & Polymorphism other
  • variants in SHH, RORA, MRPL53, ACVR1, and GDF11 may contribute to risk of orofacial clefts
  • Candidate gene
    Therapy target
    small molecule inhibition of BMP type I receptor activity may be useful in treating FOP and heterotopic ossification syndromes associated with excessive BMP signaling
    as a plausible therapeutic target during early chondrogenic stages of lesion formation for preventing heterotopic bone formation in FOP and other conditions
  • Postnatal overexpression of constitutively active Q207D-mutant Alk2 in the left hindlimbs of mice led development of ectopic endochondral bone formation, joint fusion, and functional impairment, thus phenocopying key aspects of human FOP .
  • Acvr1 conditional mouse knockout leads to an increase in apoptosis of lens epithelial and fiber cells resulting in smaller sizes of Acvr1 CKO mouse lenses
  • Acvr1 deficiency in mouse embryonic fibroblasts (MEFs) resulted in severe defects in their quiescence-induced primary cilia
  • bone mass was increased in the Acvr1-null mice
  • Acvr1(CKO) mice are viable but exhibit defects in the development of cranial and axial structures