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Validated All-in-One™ qPCR Primer for BMPR1A(NM_004329.2) Search again
Product ID:
HQP017489
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
10q23del, ACVRLK3, ALK-3, ALK3, BMPR-1A, CD292, SKR5
Gene Description:
bone morphogenetic protein receptor type 1A
Target Gene Accession:
NM_004329.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
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:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2.
Gene References into function
- Germline mutations in BMPR1A cause a subset of juvenile polyposis syndrome and Cowden syndrome cases.
- BMPR1A can act as a minor susceptibility gene for PTEN mutation negative Cowden syndrome
- BMPR-IA may interact with and modulate the activity of a developmentally relevant splicing factor
- A defect in BMPRIA internalization and increased activation of downstream signaling, suggesting that altered BMP receptor trafficking underlies ectopic bone formation in fibrodysplasia ossificans progressiva.
- BMPR1A is a promising marker for evaluating ganglion cells in the enteric nervous system.
- Human granulosa-like tumor cell line KGN expressed BMP type I (BMPR1A and BMPR1B) and type II receptors (BMPR2) and the BMP signaling molecules SMADs (SMAD1 and SMAD5).
- BMPR1A mutation accounts for hereditary mixed polyposis syndrome and inactivating this gene can initiate colorectal tumourigenesis
- structure of the ternary complex representing the signaling competent complex of BMP-2 bound to the entire extracellular domains of both its type I receptor, BMPR-Ia, & its type II receptor, ActRII, at a resolution of 2.2 angstroms
- Cooperation between this gene and PTEN gene is deleted on chromoome 10 in juvenile polyposis coli.
- SF3b4, known to be localized in the nucleus and involved in RNA splicing, binds BMPR-IA and specifically inhibits BMP-mediated osteochondral cell differentiation
- Linkage analysis suggested a cryptic BMPR1A mutation or the presence of another gene in close proximity to the BMPR1A locus.
- Expression of BMP-4 and BMP-7 and their receptors in human ovaries from fetuses as well as adults.
- 5 nonsense, 2 frameshift, 4 missense and 2 splice site mutations were associated with juvenile polyposis syndrome. A 65-BP deletion in intron 4 included -2 of the splice acceptor side of exon 5.
- inactivating BMPR-IA and causing a loss of the BMP-2 tumor suppressor function in colon epithelial cells.
- Large genomic deletions of SMAD4, BMPR1A and PTEN are a common cause of JPS.
- Germline mutation of BMPR1A in a family with juvenile polyposis and colon cancer
- patients with 10q23 microdeletions involving the PTEN and BMPR1A genes have variable clinical phenotypes, which cannot be explained merely by the deletion sizes, and are not restricted to severe infantile juvenile polyposis
- Loss of Bmpr1a, by decreasing MMP2 and/or MMP9 activity, can account for vascular dilatation and persistence of brain microvessels, leading to the impaired organogenesis documented in the brain.
- The overall prevalence of SMAD4 and BMPR1A point mutations and deletions in JPS was 45% in the largest series of patients to date
- The solution structure of BMPR-IA reveals a local disorder-to-order transition upon BMP-2 binding.