SGCB

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

SGCB
Identifiers
Aliases	SGCB, A3b, LGMD2E, SGC, sarcoglycan beta, LGMDR4
External IDs	OMIM: 600900; MGI: 1346523; HomoloGene: 195; GeneCards: SGCB; OMA:SGCB - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q12 Start 52,020,706 bp[1] End 52,038,299 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 C3.3 Start 73,790,092 bp[2] End 73,805,133 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii Skeletal muscle tissue of rectus abdominis Skeletal muscle tissue of biceps brachii right ventricle ganglionic eminence internal globus pallidus trigeminal ganglion ventricular zone sperm tibia Top expressed in triceps brachii muscle temporal muscle sternocleidomastoid muscle right ventricle digastric muscle ankle muscle of thigh myocardium of ventricle intercostal muscle quadriceps femoris muscle More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 6443 24051 Ensembl ENSG00000163069 ENSMUSG00000029156 UniProt Q16585 Q5U0N0 P82349 RefSeq (mRNA) NM_000232 NM_011890 RefSeq (protein) NP_000223 NP_000223.1 NP_036020 Location (UCSC) Chr 4: 52.02 – 52.04 Mb Chr 5: 73.79 – 73.81 Mb PubMed search [3] [4]
Wikidata
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The dystrophin-glycoprotein complex (DGC) is a multisubunit protein complex that spans the sarcolemma and provides structural linkage between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. There are 3 main subcomplexes of the DGC: the cytoplasmic proteins dystrophin (DMD; MIM 300377) and syntrophin (SNTA1; MIM 601017), the alpha- and beta-dystroglycans (see MIM 128239), and the sarcoglycans (see, e.g., SGCA; MIM 600119) (Crosbie et al., 2000).[supplied by OMIM].^[6]

Clinical significance

Mutations in the SGCB gene are known to cause Limb-girdle muscular dystrophy, autosomal recessive 4 (LGMDR4).^[7] This condition causes pelvic and shoulder muscle wasting, usually from childhood.