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P176 CAPN3

SALSA MLPA Probemix P176 CAPN3 detects copy number variations in the CAPN3 gene.

Specifications

Contents: 36 MLPA probes, including 26 probes for CAPN3.

Tissue: human genomic DNA.

Application: research on limb-girdle muscular dystrophy type 2A (LGMD2A).

For research use only (RUO). Not for use in diagnostics.

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Key related products

P034 DMD-1

Duchenne muscular dystrophy and Becker muscular dystrophy. Contains probes for all DMD exons when used together with P035.

P035 DMD-2

Duchenne muscular dystrophy and Becker muscular dystrophy. Contains probes for all DMD exons when used together with P034.

P048 LMNA/MYOT/ZMPSTE24

Contains probes for the LMNA and CAV3 genes involved in LGMD1B and 1C.

View all

General information

The SALSA MLPA Probemix P176 CAPN3 is a research use only (RUO) assay for the detection of deletions or duplications in the CAPN3 gene, which is associated with limb-girdle muscular dystrophy type 2A (LGMD2A).

Limb-girdle muscular dystrophies (LGMD) are a group of phenotypically and genotypically heterogeneous diseases, characterised by progressive weakness and atrophy of the muscles of the pelvic and shoulder girdle. Mutations of the CAPN3 gene have been associated with limb-girdle muscular dystrophy type 2A (LGMD2A), also called calpainopathy. Patients with LGMD2A have symmetrical and selective involvement of proximal limb-girdle muscles. The disease shows wide intrafamilial and interfamilial clinical variability. The age at onset ranges from 2 to 40 years, but the disease usually first appears in the second or third decade of life, with the development of proximal weakness in the lower limbs. Mutations in CAPN3 result in a cascade of events leading eventually to muscular dystrophy, but the precise underlying mechanisms have yet to be elucidated. However, a defect in proteolytic activity of calpain 3, the protein encoded by CAPN3, is largely recognised as the main pathogenic cause of LGMD2A.

The CAPN3 gene (24 exons) spans ~53 kb of genomic DNA and is located on chromosome 15q15.1, ~40 Mb from the p-telomere. The gene is predominantly expressed in skeletal muscle where it is present in the cytosol as well as in the nucleus. The protein encoded by this gene (calpain 3) belongs to the superfamily of calcium-activated neutral proteases, which are non-lysosomal intracellular cysteine proteases. Calpains respond to Ca2+ signals by cleaving specific proteins, frequently components of signalling cascades, thereby irreversibly modifying their function(s).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1313/.

Regulatory status

SALSA MLPA Probemix P176 CAPN3 is for research use only (RUO) in all territories.

Product documentation

Version C3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P176-025R
SALSA MLPA Probemix P176 CAPN3 – 25 rxn
MLPA
€ 286.00
P176-050R
SALSA MLPA Probemix P176 CAPN3 – 50 rxn
MLPA
€ 560.00
P176-100R
SALSA MLPA Probemix P176 CAPN3 – 100 rxn
MLPA
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 348.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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