Figure 6 - uploaded by Shahin Asadi
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Schematic overview of chromosome 2 where the ACVR1 gene is located in the long arm of chromosome 2q24.1.
Source publication
Fibrodysplasia Ossificans Progressiva (FOP) is a severely disabling
heritable disorder of connective tissue characterized by congenital
malformations of the great toes and progressive heterotopic
ossification that forms qualitatively normal bone in characteristic extraskeletal
sites. Classic FOP is caused by a recurrent activating mutation
(617G>A;...
Context in source publication
Context 1
... man syndrome (FOP) is caused by a genetic mutation in the ACVR1 gene located on the long arm of chromosome 2 as 2q24.1. (Figure 6) It plays a role in the BMP receptor signaling pathway that determines the fate of stem cells. BMPR receptors in humans include BMPR1A, BMPR1B, BMPR2, and BMP4, which play prominent roles in the FOP signaling pathway of only BMPR1A and BMP4 receptors. ...
Similar publications
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare heritable disorder of connective tissues characterized by progressive heterotopic ossification in various skeletal sites. It is caused by gain-of-function mutations in the gene encoding activin A receptor type I (ACVR1)/activin-like kinase 2 (ALK2), a bone morphogenetic protein (BMP)...
