Gene Symbol | SGCD |
Entrez Gene ID | 6444 |
Full Name | sarcoglycan delta |
Synonyms | 35DAG,CMD1L,DAGD,SG-delta,SGCDP,SGD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Muscular dystrophy, limb-girdle, type 2F, 601287 (3); Cardiomyopathy, dilated, 1L, 606685 (3) |