Dystrophin

Title: Dystrophin
Literature References: Protein product of the human Duchenne muscular dystrophy (DMD) gene. Mol wt approx 400,000 daltons. Present in very small amounts in normal muscle (approx 0.002% of total muscle protein) but either absent or abnormal in muscular dystrophy patients. Thought to be an intracellular structural component of the plasma membrane system in normal muscle fibers. Complete cloning of DMD cDNA: M. Koenig et al., Cell 50, 509 (1987). Isoln of dystrophin from mouse and human muscle tissue: E. P. Hoffman et al., ibid. 51, 919 (1987). Subcellular localization studies: E. P. Hoffman et al., Nature 330, 754 (1987); C. M. Knudson et al., J. Biol. Chem. 263, 8480 (1988); E. E. Zubrzycka-Gaarn et al., Nature 333, 466 (1988); S. C. Watkins et al., ibid. 863. Amino acid sequence and structural similarity to a-actinin and to the cytoskeletal protein, spectrin: M. Koenig et al., Cell 53, 219 (1988). Characterization of DMD gene expression in normal and diseased human muscle: M. Oronzi Scott et al., Science 239, 1418 (1988); in animal muscle and brain: U. Nudel et al., Nature 331, 635 (1988). Differentiation of muscle and brain DMD mRNA: U. Nudel et al., ibid. 337, 76 (1989). Correlation of clinical phenotype with dystrophin abnormalities: E. P. Hoffman et al., N. Engl. J. Med. 318, 1363 (1988). Use of dystrophin cDNA for prenatal diagnosis and carrier detection in muscular dystrophy: B. T. Darras et al., Am. J. Med. Genet. 29, 713 (1988).
Ebastine Ebimar? Ebselen Eburnamonine Ecabapide

Dystrophin

PDB rendering based on 1dxx.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols DMD; BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272
External IDs OMIM: 300377 MGI: 94909 HomoloGene: 20856 GeneCards: DMD Gene
RNA expression pattern
PBB GE DMD 203881 s at tn.png
PBB GE DMD 208086 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1756 13405
Ensembl ENSG00000198947 ENSMUSG00000045103
UniProt P11532 P11531
RefSeq (mRNA) NM_000109 NM_007868
RefSeq (protein) NP_000100 NP_031894
Location (UCSC) Chr X:
31.14 – 33.36 Mb
Chr X:
82.95 – 85.21 Mb
PubMed search [1] [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. This complex is variously known as the costamere or the dystrophin-associated protein complex. Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere.

The dystrophin gene is one of the longest human genes known, covering 2.5 megabases (0.08% of the human genome) at locus Xp21. The primary transcript measures about 2,400 kilobases and takes 16 hours to transcribe;[1] the mature mRNA measures 14.0 kilobases.[2] The 79 exons[3] code for a protein of over 3500 amino acid residues.[4]