Variants
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SGCB Gene

sarcoglycan beta

ALIAS SYMBOLS

  • SGC

  • A3b

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Description

The SGCB gene provides instructions for making the beta component (subunit) of a group of proteins called the sarcoglycan protein complex. The sarcoglycan protein complex is located in the membrane surrounding muscle cells. It helps maintain the structure of muscle tissue by attaching (binding) to and stabilizing the dystrophin complex, which is made up of proteins called dystrophins and dystroglycans. The large dystrophin complex strengthens muscle fibers and protects them from injury as muscles tense (contract) and relax. It acts as an anchor, connecting each muscle cell's structural framework (cytoskeleton) with the lattice of proteins and other molecules outside the cell (extracellular matrix).

CHROMOSOME

4


LOCATION

q12


LOCUS TYPE

gene with protein product

VARIANTS

287

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Phenotypes

External Links

  • HGNC

    HGNC:10806

  • NCBI

    6443

  • OMIM

    600900

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