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FLASH GENE

Symbol

ACVR1

contributors: shn/npt/pgu - updated : 03-04-2018

HGNC name	activin A receptor, type I
HGNC id	171

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

FOP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
Marker
Therapy target
	System Type Disorder Pubmed osteoarticular bone   small molecule inhibition of BMP type I receptor activity may be useful in treating FOP and heterotopic ossification syndromes associated with excessive BMP signaling osteoarticular bone   as a plausible therapeutic target during early chondrogenic stages of lesion formation for preventing heterotopic bone formation in FOP and other conditions

ANIMAL & CELL MODELS

	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