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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
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SGCA / DAG2
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCA / DAG2 is a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.
| Gene Name: | sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) |
| Synonyms: | SGCA, 50DAG, 50-DAG, 50kD DAG, ADL, Alpha-SG, Adhalin, Alpha-sarcoglycan, DAG2, Dystroglycan-2, SCARMD1, DMDA2, LGMD2D |
| Target Sequences: | NM_000023 NP_000014.1 Q16586 |
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