Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
SGCB

SGCB

Reviewed April 2011

What is the official name of the SGCB gene?

The official name of this gene is “sarcoglycan, beta (43kDa dystrophin-associated glycoprotein).”

SGCB is the gene's official symbol. The SGCB gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SGCB gene?

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).

How are changes in the SGCB gene related to health conditions?

limb-girdle muscular dystrophy - caused by mutations in the SGCB gene

Approximately 50 mutations in the SGCB gene have been identified in people with limb-girdle muscular dystrophy type 2E. Limb-girdle muscular dystrophy is a group of related disorders characterized by muscle weakness and wasting, particularly in the shoulders, hips, and limbs.

Some people with limb-girdle muscular dystrophy type 2E also develop a heart condition called dilated cardiomyopathy. Dilated cardiomyopathy is a form of heart disease that enlarges and weakens the heart (cardiac) muscle, preventing it from pumping blood efficiently. Dilated cardiomyopathy progresses rapidly and is life-threatening in many cases.

Forms of limb-girdle muscular dystrophy caused by gene mutations that affect the sarcoglycan complex are called sarcoglycanopathies. SGCB gene mutations may prevent the sarcoglycan complex from forming or from binding to and stabilizing the dystrophin complex. Problems with these complexes reduce the strength and resilience of muscle fibers and result in the signs and symptoms of limb-girdle muscular dystrophy.

Where is the SGCB gene located?

Cytogenetic Location: 4q12

Molecular Location on chromosome 4: base pairs 52,019,585 to 52,052,399

The SGCB gene is located on the long (q) arm of chromosome 4 at position 12.

The SGCB gene is located on the long (q) arm of chromosome 4 at position 12.

More precisely, the SGCB gene is located from base pair 52,019,585 to base pair 52,052,399 on chromosome 4.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SGCB?

You and your healthcare professional may find the following resources about SGCB helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SGCB gene or gene products?

  • 43DAG
  • 43 kDa dystrophin-associated glycoprotein
  • A3b
  • beta-sarcoglycan
  • beta-SG
  • LGMD2E
  • SG-beta
  • SGC
  • SGCB_HUMAN

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SGCB?

cardiac ; cardiomyopathy ; cell ; cytoskeleton ; dilated ; extracellular ; extracellular matrix ; gene ; injury ; muscle cell ; muscle cells ; muscular dystrophy ; protein ; resilience ; subunit ; tissue ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (11 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: April 2011
Published: December 16, 2014