FIGURE: 1 / 9
Immunogen sequence: VGEKSWVQF NSNSQLMYGL PDSSHVGKHE YFMHATDKGG LSAVDAFEIH VHRRPQGDRA PARFKAKFVG DPALVLNDIH KKIALVKKLA FAFGDRNCST ITLQNITRGS IVVEWTNNTL PLEPCPKEQI AGLSRRIAED DGKPRPAFSN ALEPDFKATS ITVTGSGSCR HLQFIPVVPP RRVPSEAPPT EVPDRDPEKS SEDDVYLHTV IPAVVVAAIL LIAGIIAMIC YRKKRKGKLT LEDQATFIKK GVPIIFADEL DDSKPPPSSS MPLILQEEKA PLPPPEYPNQ SVPETTPLNQ DTMGEYTPLR DEDPNAPPYQ PPPPFTAPME GKGSRPKNMT PYRSPPPYVP P (546-895 aa encoded by BC012740)
Dystroglycan is a laminin binding component of the dystrophin-glycoprotein complex which provides a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix. Dystroglycan 1 is a candidate gene for the site of the mutation in autosomal recessive muscular dystrophies. The dramatic reduction of dystroglycan 1 in Duchenne muscular dystrophy leads to a loss of linkage between the sarcolemma and extracellular matrix, rendering muscle fibers more susceptible to necrosis. Dystroglycan also functions as dual receptor for agrin and laminin-2 in the Schwann cell membrane. The muscle and nonmuscle isoforms of dystroglycan differ by carbohydrate moieties but not protein sequence. Alternative splicing results in multiple transcript variants all encoding the same protein.
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Protein Aliases: Alpha-DG; Alpha-dystroglycan; Beta-DG; Beta-dystroglycan; Dystroglycan; Dystroglycan 1; dystroglycan 1 (dystrophin-associated glycoprotein 1); dystrophin associated glycoprotein 1; Dystrophin-associated glycoprotein 1
Gene Aliases: 156DAG; A3a; AGRNR; D9Wsu13e; DAG; DAG1; DG; Dp427; Dp71; MDDGA9; MDDGC7; MDDGC9
Molecular Function: cell adhesion molecule