ACVR1

(redirected from ALK2)

ACVR1

A gene on chromosome 2q23-q24 that encodes activin receptor type I, a receptor that forms a complex with other type-I and two type-II transmembrane serine/threonine kinase receptors for activin, a dimeric growth and differentiating factor belonging to the TGF-beta superfamily of structurally related signalling proteins. Type-II receptors phosphorylate and activate type-I receptors, which autophosphorylate, then bind and activate SMAD transcriptional regulators, playing roles in cell differentiation, growth arrest and apoptosis. 

Molecular pathology
ACVR1 mutations are linked to fibrodysplasia ossificans progressive.
References in periodicals archive ?
One of the first people in the world to perform live using the all-important ALK2 technology, the upcoming gig will see Ian create a series of multi-layered tracks - featuring guest vocals from folk singer Kitty MacFar-Turn to Page 40 From Page 39 lane, who is also playing a support slot - and there won't be a looping pedal in sight.
FOP is caused by a mutation in the gene for ALK2, which is known as ACVR1, that causes hypersensitivity to certain bone morphogenetic proteins and a neomorphic response to activins.
Wrana, "Specific activation of Smad1 signaling pathways by the BMP7 type I receptor, ALK2," Journal of Biological Chemistry, vol.
The FOP-iPSC lines containing ALK2 mutation displayed decreased differentiation efficiency into bone-forming progenitors and reduced expression of VEGF receptor 2 in differentiated endothelial cells.
Scheideler, "MicroRNA-30c promotes human adipocyte differentiation and co-represses PAI-1 and ALK2," RNA biology, vol.
A nivel de superficie celular, el dimero de BMP se une al receptor tipo I (activin receptor-like kinase; ALK2, ALK3, o ALK6) y al receptor tipo II (BMPR-II, ActR-IIA, o ActRIIB) para la formacion de complejos heteromericos.
The company stated that the two compounds that received orphan drug designation are small-molecule kinase inhibitors designed to selectively block a specific member of the bone morphogenetic protein (BMP) type-I receptor family, ALK2. The seven members of the BMP type-I receptor family, activin receptor-like kinase (ALK) 1-7, play critical roles in human development and physiology.
It has been found that the BMPs are expressed in a specific time and place in order to regulate the growth of craniofacial elements derived from the neural crest, and that Nog union alters this growth through via binding to type I receptor Alk2 using the Wnt pathway, which results in cleft lip and palate and mandibular hypoplasia (74).
Specific activation of Smad1 signaling pathways by the BMP7 type I receptor, ALK2. J Biol Chem 1998; 273: 25628-25636, doi: 10.1074/jbc.273.40.25628.
One possible explanation is that BMP7 preferentially acts through Alk2 (a stimulatory pathway), whereas BMP2/4 preferentially acts through Alk3 (an inhibitory pathway).
La importancia de las BMPs en la palatogenesis se empezo a evidenciar mediante modelos de investigacion con ratones a los que se les inducia hendidura palatina mediante aplicacion de acido retinoico y se asocio con expresion disminuida de BMP2, 4 y 5.24 Evidencia adicional se obtuvo mediante el estudio de ratones transgenicos con inactivacion de Alk2 o Bmpr1a (receptores de BMPs), en los cuales se desarrollaron hendiduras orofaciales.