|
ORF cDNA clones
|
CRISPR / TALEN
|
Lentivirus
|
AAV
|
TALE-TF
|
ORF knockin clones
|
|
Antibody
|
Proteins
|
miRNA target clones
|
qPCR primers
|
shRNA clones
|
miRNA products
|
Promoter clones
|
Validated All-in-One™ qPCR Primer for ACVR1(NM_001105.4) Search again
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
Summary
Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq].
Gene References into function
- distribution in gestational tissues across human pregnancy and during labour
- We mapped fibrodysplasia ossificans progressiva to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A; R206H) in the glycine-serine (GS) activation domain of ACVR1
- Study examined 3 Japanese patients with Fibrodysplasia ossificans progressiva for ACVR1 mutations and identified the 617G>A mutation in all 3 patients; results suggest that the mutation in the ACVR1 gene is common and recurrent in the global population.
- knockdown of ALK2, but not TGFbetaRI (ALK5), abrogated endoglin-mediated decreases in cell motility and constitutively active ALK2 was sufficient to restore a low-motility phenotype in endoglin deficient cells
- In both the wild-type ACVR1 model and template crystal structures (TbetaRI), the conserved arginine appears to form a salt bridge with an invariant aspartate residue.
- Various mutations may occur in myositis ossificans nuclear families.
- Together, these findings show that TGFbeta superfamily activation of Smad2/3 is required for repression of spontaneous differentiation under strain.
- there was significant down-regulation of ALK-2 expression in asthma patients at baseline; allergy challenge was associated with upregulation
- ALK2 signalling contributes to the disturbed folliculogenesis in polycystic ovary syndrome (PCOS) patients.
- ALK2(G356D) activities found in Japanese fibrodysplasia ossificans progressiva patient were weaker than those of ALK2(R206H), and they were suppressed by a specific inhibitor of the BMP-regulated Smad pathway.
- The serum activin A level, increased in AMI, was positively correlated with peak CK and CK-MB levels which are measures of infarction size.
- activin inhibits the growth of SNU-16 cells by inducing apoptosis through caspase activation.
