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Official Symbol: | DYSF |
NCBI Gene ID: | 8291 |
Aliases: |
FER1L1 LGMD2B LGMDR2 MMD1 |
Official Full Name: | dysferlin |
Species: | human |
Summary: | The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]. |
There is no existing raPOOL for your gene, hence a custom raPOOL set up service is required. Please add this to cart and proceed to choose the raPOOL scale required where 2, 5 or 10 nmol is sufficient for 20, 50 or 100 reactions with the recommended use of 100 pmol raPOOL per reaction.
Custom raPOOL Set Up Service
One-time raPOOL set up fee for a new gene. Price: € 529,00 |
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Includes design of new probes against target RNA. Charged on top of raPOOL 2, 5 or 10 price. Charged once only, subsequent order of raPOOL follows raPOOL-2, 5 or 10 pricing. |
raPOOL 10
10nmol raPOOL Price: € 1.155,00 |
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Amount provided: 10 nmol. Sufficient for 100 reactions. HPLC-purified, freeze-dried. |
raPOOL 2
2nmol raPOOL Price: € 325,00 |
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Amount provided: 2 nmol. Sufficient for 20 rxns. HPLC-purified, freeze-dried. |
raPOOL 5
5 nmol raPOOL Price: € 675,00 |
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Amount provided: 5 nmol. Sufficient for 50 reactions. HPLC-purified, freeze-dried. |