SGCD

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]

Description

Sarcoglycan delta

Tissue specificity

Tissue enhanced (heart muscle, skeletal muscle, tongue)

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

5 (155870344 - 156767788)

Ensembl ID

ENSG00000170624  (ver. 103.38)

Orthologs

Mouse Sgcd: ENSMUSG00000020354

UniProt

Q92629

neXtProt

NX_Q92629

Human splice variants
Mouse splice variants

Protein structure