SGCD 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]

SGCD Details

Gene Symbol : SGCD

Gene Name : Sarcoglycan delta

Chromosome : CHR 5: 155,728,635-156,767,787

Locus : 5q33.2-q33.3

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TNIP1 Summary

This gene encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

TNIP1 Details

Gene Symbol : TNIP1

Gene Name : TNFAIP3 interacting protein 1

Chromosome : CHR 5: 151,087,659-151,029,942

Locus : 5q33.1

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