The SGCD gene homepage
| General information |
| Gene symbol |
SGCD |
| Gene name |
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) |
| Chromosome |
5 |
| Chromosomal band |
q33-q34 |
| Imprinted |
- |
| Genomic reference |
NG_008693.1 |
| Transcript reference |
NM_000337.5 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
27 |
| Unique public DNA variants reported |
21 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as: SGD; DAGD; 35DAG; CMD1L; SGCDP; SG-delta |
| Date created |
May 04, 2013 |
Active transcripts
| Copyright & disclaimer |
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