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

FEBS Letters

Kunkel, Louis M²  McNally, Elizabeth M¹  Ly, Chantal T¹ 

[1] University of Chicago, Section of Cardiology, 5841 S. Maryland, MC 6088, Chicago, IL 60637, USA;Children's Hospital and Howard Hughes Medical Institute, Boston, MA 02115, USA

关键词: Sarcoglycan;    Dystrophin;    Muscular dystrophy;    Split hand/split foot;    Chromosome 7;    DGC;    dystrophin-glycoprotein complex;    SHSF;    split hand/split foot;   

DOI  :  10.1016/S0014-5793(97)01593-7

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 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 new sarcoglycan gene with high homology to α-sarcoglycan highlighting the redundancy of the DGC. This gene, named ϵ-sarcoglycan, has an identical intron-exon structure to α-sarcoglycan, and is more broadly expressed. The characterization of ϵ-sarcoglycan should make it possible to determine if it, like the other sarcoglycan genes, is mutated in muscular dystrophy.

【 授权许可】

Unknown