Gene Symbol | SGCB |
Entrez Gene ID | 6443 |
Full Name | sarcoglycan beta |
Synonyms | A3b,LGMD2E,SGC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]. |
Disorder MIM: | |
Disorder Html: | Muscular dystrophy, limb-girdle, type 2E, 604286 (3) |