SDCCAG3
The sdccag3 Gene: A Complex Role in Human Health
Description
The sdccag3 gene, located on chromosome 18, encodes a protein known as sarcoglycan-gamma-3. Sarcoglycans are essential components of the dystrophin-associated glycoprotein complex (DGC), a multi-protein complex that anchors muscle fibers to the extracellular matrix.
The sdccag3 gene consists of 10 exons and spans approximately 23 kilobases. It is highly conserved across species, indicating its importance in muscle function.
Associated Diseases
Mutations in the sdccag3 gene are associated with a group of inherited muscle disorders known as limb-girdle muscular dystrophies (LGMDs). LGMDs are characterized by progressive muscle weakness and atrophy, primarily affecting the muscles of the limbs and trunk.
The most common LGMD associated with sdccag3 mutations is LGMD2C, accounting for approximately 10-15% of all LGMD cases. Other LGMD subtypes linked to sdccag3 mutations include LGMD2D, LGMD2E, LGMD1F, and LGMD1G.
Did you Know ?
The prevalence of sdccag3-related LGMDs varies across different ethnic groups. For instance, in the Japanese population, LGMD2C is relatively common, affecting approximately 1 in 50,000 individuals. In contrast, it is less prevalent in other populations, such as the European and North American populations, where it affects roughly 1 in 500,000 people.
