Immunogen sequence: KQNDVHRAFK RELKTKEPVI MSTLETVRIF LTEQPLEGLE KLYQEPRELP PEERAQNVTR LLRKQAEEVN TEWEKLNLHS ADWQRKIDET LERLQELQEA TDELDLKLRQ AEVIKGSWQP VGDLLIDSLQ DHLEKVKALR GEIAPLKENV
Dystrophin is the 427kDa protein product of the DMB/BMD gene located on the X chromosome at position Xp21. Western blotting and immunohistochemistry are the two established methods for the detection of abnormalities of dystrophin expression in muscle biopsies. Dystrophin abnormalities are thought to occur in 100% of patients with DMD/BMD, although genetic abnormalities may only be detected in up to 65% of cases.
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Protein Aliases: Dystrophin; GS1-19O24.1; OTTHUMP00000215592
Gene Aliases: BMD; CMD3B; DMD; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
UniProt ID: (Human) P11532
Entrez Gene ID: (Human) 1756