SGCD

Chr 5AR

sarcoglycan delta

Also known as: 35DAG, CMD1L, DAGD, LGMDR6, SG-delta, SGCDP, SGD

NCBI Gene: 6444 ENSG00000170624 UniProt: Q92629 OMIM: 601411

The protein is a component of the sarcoglycan complex within the dystrophin-glycoprotein complex, linking the F-actin cytoskeleton to the extracellular matrix in skeletal and cardiac muscle. Mutations cause autosomal recessive limb-girdle muscular dystrophy type 6 and dilated cardiomyopathy through loss of function. The inheritance pattern is autosomal recessive.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cardiomyopathy, dilated, 1LMIM #606685

Muscular dystrophy, limb-girdle, autosomal recessive 6MIM #601287

Clinical highlights

Gene-disease validity (ClinGen)

autosomal recessive limb-girdle muscular dystrophy · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.82

LOEUF

Multiple*

Mechanism· predicted

📖

GeneReview available — SGCD