Home
>
Product
>
Antibody
>
Rabbit Anti-delta Sarcoglycan antibody
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]
Function:
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
Subcellular Location:
Cell membrane > sarcolemma. Cytoplasm > cytoskelet
Tissue Specificity:
Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.
Post-translational modifications:
Glycosylated.
Disulfide bonds are present.
DISEASE:
Defects in SGCD are the cause of limb-girdle muscular dystrophy type 2F (LGMD2F) [MIM:601287]. LGMD2F is an autosomal recessive disorder.
Defects in SGCD are the cause of cardiomyopathy dilated type 1L (CMD1L) [MIM:606685]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Similarity:
Belongs to the sarcoglycan beta/delta/gamma/zeta family.
SWISS:
Q92629
Gene ID:
6444
Database links:
Entrez Gene: 6444 Human
Entrez Gene: 4852 Mouse
Omim: 601411 Human
SwissProt: Q92629 Human
SwissProt: P82347 Mouse
Unigene: 387207 Human
Unigene: 644733 Human
Unigene: 338890 Mouse
|
|
