Human Gene SGCA (uc002iqi.3) Description and Page Index
Description: Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA. RefSeq Summary (NM_000023): This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. Transcript (Including UTRs) Position: hg19 chr17:48,243,366-48,253,293 Size: 9,928 Total Exon Count: 10 Strand: + Coding Region Position: hg19 chr17:48,243,402-48,252,798 Size: 9,397 Coding Exon Count: 9
ID:SGCA_HUMAN DESCRIPTION: RecName: Full=Alpha-sarcoglycan; Short=Alpha-SG; AltName: Full=50 kDa dystrophin-associated glycoprotein; Short=50DAG; AltName: Full=Adhalin; AltName: Full=Dystroglycan-2; Flags: Precursor; 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. SUBUNIT: Interacts with the syntrophin SNTA1. Cross-link to form 2 major subcomplexes: one consisting of SGCB, SGCD and SGCG and the other consisting of SGCB and SGCD. The association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans (By similarity). SUBCELLULAR LOCATION: Cell membrane, sarcolemma; Single-pass type I membrane protein (By similarity). Cytoplasm, cytoskeleton (By similarity). TISSUE SPECIFICITY: Most strongly expressed in skeletal muscle. Also expressed in cardiac muscle and, at much lower levels, in lung. In the fetus, most abundant in cardiac muscle and, at lower levels, in lung. Also detected in liver and kidney. Not expressed in brain. DISEASE: Defects in SGCA are the cause of limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]; also known as Duchenne- like muscular dystrophy autosomal recessive type 2 or severe childhood autosomal recessive muscular dystrophy (SCARMD). LGMD2D is an autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency. The phenotype is less severe than LGMD2C. SIMILARITY: Belongs to the sarcoglycan alpha/epsilon family. WEB RESOURCE: Name=Leiden Muscular Dystrophy pages; Note=SGCA mutations in LGMD2D; URL="http://www.dmd.nl/sgca_home.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SGCA";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q16586
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.