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Validated All-in-One™ qPCR Primer for MCOLN1(NM_020533.2) Search again
Product ID:
HQP015489
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
MG-2, ML1, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1
Gene Description:
mucolipin TRP cation channel 1
Target Gene Accession:
NM_020533.2(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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Gene References into function
- Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population from New York metropolitan area
- Review of mutations in MCOLN1 that lead to Mucolipidosis Type IV
- Characterization of the conductance properties of mucolipin-1 in the presence of cations.
- Transfected into Caenorhabditis elegans affects lysosome biogenesis.
- A review of mucolipin-1's role in calcium signaling and membrane trafficking in mucolipidosis IV.
- ML1 may help regulate vesicular membrane potential, the process of acidification associated with normal vesicular function, and/or Ca2+ transport, into intracellular organelles.
- TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage
- TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity
- posttranslational processing of ML1 is more complex than previously described and this protein is delivered to lysosomes primarily via an AP-1-dependent route that does not involve passage via the cell surface
- there is a hierarchy controlling the subcellular distributions of the TRPMLs such that TRPML1 and TRPML2 dictate the localization of TRPML3 and not vice versa
- Data demonstrate that the correct localization of mucolipin-1 and the integrity of its ion pore are essential for its physiological function in the late endocytic pathway.
- Sequencing of the MCOLN1 gene identified compound heterozygosity for D362Y and A-->T transition leading to the creation of a novel donor splicing site and a 4-bp deletion from exon 13 at the mRNA level.
- Mutations in the gene coding for TRPML1 result in a lysosomal storage disorder (LSD).
- tTwo PKA (protein kinase A) consensus motifs in the C-terminal tail of MCOLN1, containing Ser(557) and Ser(559). Ser(557) are the principal phosphorylation sites.
- TRPML1 functions as a Fe(2+) permeable channel in late endosomes and lysosomes