Human ε-sarcoglycan is highly related to α-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene

被引:111
作者
McNally, EM
Ly, CT
Kunkel, LM
机构
[1] Univ Chicago, Cardiol Sect, Chicago, IL 60637 USA
[2] Childrens Hosp, Boston, MA 02115 USA
[3] Howard Hughes Med Inst, Boston, MA 02115 USA
来源
FEBS LETTERS | 1998年 / 422卷 / 01期
关键词
sarcoglycan; dystrophin; muscular dystrophy; split hand split foot; chromosome; 7;
D O I
10.1016/S0014-5793(97)01593-7
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The dystrophin-glycoprotein complex (DGC) is critical for muscle membrane stability, The sarcoglycans are transmembrane proteins, within the DGC, and the function of the sarcoglycans is unknown, Mutations in sarcoglycan genes cause autosomal recessive muscular dystrophy. We have identified a nem sarcoglycan gene with high homology to ab sarcoglycan highlighting the redundancy of the DGC, This gene, named epsilon-sarcoglycan, has an identical intron-exon structure to alpha-sarcoglycan, and is more broadly expressed, The characterization of epsilon-sarcoglycan should make it possible to determine if it, like the other sarcoglycan genes, is mutated in muscular dystrophy. (C) 1998 Federation of European Biochemical Societies.
引用
收藏
页码:27 / 32
页数:6
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