Dystrophin

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dystrophin (muscular dystrophy, Duchenne and Becker types)
Identifiers
Symbol DMD
HUGO 2928
Entrez 1756
OMIM 300377
RefSeq NM_004006
UniProt P11532
Other data
Locus Chr. X p21.2

Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane.

Dystrophin has the longest gene known to date, measuring 2.5 megabases (0.1% of the human genome). Its gene's locus is Xp21 and has 79 exons, produces an mRNA of 14.6 kilobases and a protein of over 3500 amino acid residues.

Its deficiency is one of the root causes of muscular dystrophy. It was first identified in 1987 by Louis M. Kunkel [1], after the 1986 discovery of the mutated gene that causes Duchenne muscular dystrophy (DMD) [2].

Normal tissue contains small amounts of dystrophin (about 0.002% of total muscle protein), but its absence leads to both DMD and fibrosis, a condition of muscle hardening. A different mutation of the same gene causes defective dystrophin, leading to Becker's muscular dystrophy (BMD).

  1. ^ Hoffman et al., Cell. 1987 Dec 24;51(6):919-928
  2. ^ Monaco et al., Nature. 1986 Oct 16-22;323(6089):646-650

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Protein: membrane proteins

Ankyrin - Arrestin - Calnexin - Connexin - Dystrophin - Ephrin - Heterotrimeric GTP-binding proteins - LDL-receptor-related protein associated protein - Membrane fusion proteins - Membrane glycoproteins - Membrane transport proteins - Myelin basic protein - Neurofibromin 2 - Phospholipid transfer proteins - Pore forming toxins - Presenilin - Protoporphyrinogen oxidase - Pulmonary surfactant-associated protein B - Pulmonary surfactant-associated protein C - Spectrin - Transmembrane receptors - Utrophin - Vesicular transport proteins

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