Dystrophin, DMD IFLTEQPLEGLEK-acid

  • Description

  • Application Data

Description

The Dystrophin protein, encoded by the dystrophin gene, is part of the dystrophin glycoprotein complex which connects the inner cytoskeleton to the extracellular matrix in muscle fibres. This allows the muscle cell’s plasma membrane to remain structurally stable.

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Application Data

Catalogue number crb1001164
Molecular Weight 1515.8
Sequence (one letter code) IFLTEQPLEGLEK-acid
Sequence (three letter code)

H-Ile-Phe-Leu-Thr-Glu-Gln-Pro-Leu-Glu-Gly-Leu-Glu-Lys-OH

Purity >95%
Storage -20°C
References

Gao and McNally (2015) The Dystrophin Complex: structure, function and implications for therapy. Compr. Physiol. 5(3) 1223 PMID: 26140716

Doorenweerd et al (2017) Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy. Sci. Rep. 7 12575 doi:https://www.nature.com/articles/s41598-017-12981-5

Manufactured in: United Kingdom
Data Sheet Material Safety Data Sheet (MSDS)

The Dystrophin protein, encoded by the dystrophin gene, is part of the dystrophin glycoprotein complex which connects the inner cytoskeleton to the extracellular matrix in muscle fibres. This allows the muscle cell’s plasma membrane to remain structurally stable.

Forms of inherited muscular dystrophy such as Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) result from mutations targeting the dystrophin gene. These disorders are X-linked, progressive and cause the gradually weakening of the muscles leading to respiratory failure and ultimately reduces the patient’s lifespan.

In DMD, mutations lead to the production of premature stop codons and hence the truncated dystrophin protein product is vulnerable to nonsense mediated decay and degradation. Therefore dystrophin production in muscle cells is reduced. On the other hand, nonsense mutations which also contribute to DMD, cause exon skipping in BMD and result in an internally truncated protein product which are partially functional. The symptoms of BMD are later onset compared with DMD which develop in patients between 2 to 7 years.

Dystrophin, DMD

Cat No.Pack SizePriceQty.
0.5mg£85.00
1mg£110.00
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