SGCA

For other uses of "SGCA", see StoneGate Christian Academy and subependymal giant cell astrocytoma.

Alpha-sarcoglycan is a protein that in humans is encoded by the SGCA gene.^[5][6]

SGCA
Identifiers
Aliases	SGCA, 50-DAG, A2, ADL, DAG2, DMDA2, LGMD2D, SCARMD1, adhalin, 50DAG, sarcoglycan alpha, LGMDR3
External IDs	OMIM: 600119; MGI: 894698; HomoloGene: 9; GeneCards: SGCA; OMA:SGCA - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q21.33 Start 50,164,214 bp[1] End 50,175,928 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 D Start 94,853,617 bp[2] End 94,867,153 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in muscle of thigh gastrocnemius muscle apex of heart right coronary artery ascending aorta popliteal artery tibial arteries Descending thoracic aorta right auricle of heart gastric mucosa Top expressed in muscle of thigh ankle triceps brachii muscle sternocleidomastoid muscle extensor digitorum longus muscle temporal muscle vastus lateralis muscle interventricular septum digastric muscle triceps surae More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding protein binding Cellular component cytoplasm integral component of membrane membrane raft dystroglycan complex sarcolemma plasma membrane dystrophin-associated glycoprotein complex cytoskeleton membrane cell-cell junction sarcoglycan complex Biological process muscle organ development muscle contraction membrane organization response to denervation involved in regulation of muscle adaptation skeletal muscle tissue regeneration Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6442 20391 Ensembl ENSG00000108823 ENSMUSG00000001508 UniProt Q16586 P82350 RefSeq (mRNA) NM_000023 NM_001135697 NM_009161 RefSeq (protein) NP_000014 NP_001129169 NP_033187 Location (UCSC) Chr 17: 50.16 – 50.18 Mb Chr 11: 94.85 – 94.87 Mb PubMed search [3] [4]
Wikidata
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Function

The dystrophin-glycoprotein complex (DGC) comprises a group of proteins that are critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Components of the DGC include dystrophin (MIM 300377), which is deficient in Duchenne muscular dystrophy (DMD; MIM 310200); syntrophins (e.g., MIM 600026); dystroglycans (MIM 128239); and sarcoglycans, such as adhalin, a 50-kD transmembrane protein (Roberds et al., 1993).[supplied by OMIM].^[6]

Clinical significance

Mutations in the SGCA gene are known to cause Limb-girdle muscular dystrophy, autosomal recessive 3 (LGMDR3).^[7] This condition causes progressive muscle wasting from early childhood leading to loss of independent mobility as a teenager.

Interactions

SGCA has been shown to interact with Biglycan.^[8]