SGCD sarcoglycan delta
Gene ID: 6444, updated on 5-Mar-2024Gene type: protein coding
Also known as: SGD; DAGD; 35DAG; CMD1L; SGCDP; LGMDR6; SG-delta
- See all available tests in GTR for this gene
- Go to complete Gene record for SGCD
- Go to Variation Viewer for SGCD variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive limb-girdle muscular dystrophy type 2F | See labs |
| Dilated cardiomyopathy 1L | See labs |
| Gene network analysis in a pediatric cohort identifies novel lung function genes. GeneReviews: Not available | |
| Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. GeneReviews: Not available | |
| Genome-wide association study of anthropometric traits in Korcula Island, Croatia. GeneReviews: Not available | |
| Limb-girdle muscular dystrophy MedGen: C0686353GeneReviews: Not available | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview | See labs |
Genomic context
- Location:
- 5q33.2-q33.3
- Sequence:
- Chromosome: 5; NC_000005.10 (155727832..156767788)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SGCD variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SGCD homepage - Leiden Muscular Dystrophy pages
- Variation ViewerRelated Variants
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