Human ϵ‐sarcoglycan is highly related to α‐sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene1
- 23 January 1998
- journal article
- Published by Wiley in FEBS Letters
- Vol. 422 (1) , 27-32
- https://doi.org/10.1016/s0014-5793(97)01593-7
Abstract
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.Keywords
This publication has 18 references indexed in Scilit:
- Linkage of Familial Dilated Cardiomyopathy with Conduction Defect and Muscular Dystrophy to Chromosome 6q23American Journal of Human Genetics, 1997
- Beyond dystrophinCurrent Opinion in Pediatrics, 1996
- Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb developmentHuman Molecular Genetics, 1996
- Utrophin: A Structural and Functional Comparison to DystrophinBrain Pathology, 1996
- Mouse α1- and β2-Syntrophin Gene Structure, Chromosome Localization, and Homology with a Discs Large DomainPublished by Elsevier ,1995
- Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophyCell, 1994
- Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n‐octyl β‐d‐glucosideEuropean Journal of Biochemistry, 1994
- Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrixNature, 1992
- Membrane organization of the dystrophin-glycoprotein complexCell, 1991
- The complete sequence of dystrophin predicts a rod-shaped cytoskeletal proteinCell, 1988