" /> SGCB wt Allele - CISMeF





Preferred Label : SGCB wt Allele;

NCIt synonyms : Limb Girdle Muscular Dystrophy 2E (Non-Linked Families) Gene; SGC; A3b; LGMDR4; Sarcoglycan, Beta (43kDa Dystrophin-Associated Glycoprotein) Gene; Beta-Sarcoglycan(43kD Dystrophin-Associated Glycoprotein) Gene; Dystrophin-Associated Glycoprotein, 43-kD Gene; Sarcoglycan Beta wt Allele; Sarcoglycan, Beta Gene; LGMD2E;

NCIt definition : Human SGCB wild-type allele is located in the vicinity of 4q12 and is approximately 18 kb in length. This allele, which encodes beta-sarcoglycan protein, plays a role in the stablilization of muscle fiber membranes. Mutations in the gene are associated with autosomal recessive limb-girdle muscular dystrophy-4 (limb-girdle muscular dystrophy type 2E).;

GenBank Accession Number : U29586;

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06/05/2025


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