" /> SGCA wt Allele - CISMeF





Preferred Label : SGCA wt Allele;

NCIt synonyms : DMDA2; 50DAG; LGMDR3; Limb Girdle Muscular Dystrophy 2D Gene; Sarcoglycan, Alpha Gene; 50-DAG; SCARMD1; 50kD DAG; Dystrophin-Associated Glycoprotein, 50-kD Gene; Adhalin Gene; LGMD2D; Sarcoglycan, Alpha (50kDa Dystrophin-Associated Glycoprotein) Gene; DAG2; ADL; Sarcoglycan Alpha wt Allele;

NCIt definition : Human SGCA wild-type allele is located in the vicinity of 17q21.33 and is approximately 12 kb in length. This allele, which encodes alpha-sarcoglycan protein, is involved in the stability of muscle fiber membranes and linking the actin cytoskeleton to the extracellular matrix. Mutations in the gene are associated with autosomal recessive limb-girdle muscular dystrophy-3 (limb-girdle muscular dystrophy type 2D).;

GenBank Accession Number : L34355;

Détails


Vous pouvez consulter :


Nous contacter.
29/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.