| Literature DB >> 8943294 |
D Jung1, F Duclos, B Apostol, V Straub, J C Lee, V Allamand, D P Venzke, Y Sunada, C R Moomaw, C J Leveille, C A Slaughter, T O Crawford, J D McPherson, K P Campbell.
Abstract
The sarcoglycan complex is known to be involved in limb-girdle muscular dystrophy (LGMD) and is composed of at least three proteins: alpha-, beta-, and gamma-sarcoglycan. delta-Sarcoglycan has now been identified as a second 35-kDa sarcolemmal transmembrane glycoprotein that shares high homology with gamma-sarcoglycan and is expressed mainly in skeletal and cardiac muscle. Biochemical analysis has demonstrated that gamma- and delta-sarcoglycan are separate entities within the sarcoglycan complex and that all four sarcoglycans exist in the complex on a stoichiometrically equal basis. Immunohistochemical analysis of skeletal muscle biopsies from patients with LGMD2C, LGMD2D, and LGMD2E demonstrated a reduction of the entire sarcoglycan complex in these muscular dystrophies. Furthermore, we have mapped the human delta-sarcoglycan gene to chromosome 5q33-q34 in a region overlapping the recently linked autosomal recessive LGMD2F locus.Entities:
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Year: 1996 PMID： 8943294 DOI： 10.1074/jbc.271.50.32321
Source DB: PubMed Journal: J Biol Chem ISSN： 0021-9258 Impact factor: 5.157