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Reviewed April 2011

What is the official name of the SGCD gene?

The official name of this gene is “sarcoglycan delta.”

SGCD is the gene's official symbol. The SGCD 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 SGCD gene?

The SGCD gene provides instructions for making the delta 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. The dystrophin complex 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 SGCD gene related to health conditions?

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

At least 14 mutations in the SGCD gene have been identified in people with limb-girdle muscular dystrophy type 2F. Limb-girdle muscular dystrophy is a group of related disorders characterized by muscle weakness and wasting, particularly in the shoulders, hips, and limbs. People with limb-girdle muscle dystrophy type F have SGCD mutations in both copies of the gene in each cell (autosomal recessive inheritance pattern).

A small number of people with limb-girdle muscular dystrophy type 2F have developed 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 can be life-threatening.

Forms of limb-girdle muscular dystrophy caused by gene mutations that affect the sarcoglycan complex are called sarcoglycanopathies. SGCD 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.

other disorders - associated with the SGCD gene

A small number of people who develop dilated cardiomyopathy without skeletal muscle involvement have been found to have a mutation in one copy of the SGCD gene in each cell, an inheritance pattern called autosomal dominant.

Since other individuals with one SGCD gene mutation in each cell have normal heart muscle, some researchers question whether SGCD gene mutations are related to autosomal dominant dilated cardiomyopathy.

Genetics Home Reference provides information about familial dilated cardiomyopathy, which is also associated with changes in the SGCD gene.

Where is the SGCD gene located?

Cytogenetic Location: 5q33.3

Molecular Location on chromosome 5: base pairs 156,117,934 to 156,767,788

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The SGCD gene is located on the long (q) arm of chromosome 5 at position 33.3.

The SGCD gene is located on the long (q) arm of chromosome 5 at position 33.3.

More precisely, the SGCD gene is located from base pair 156,117,934 to base pair 156,767,788 on chromosome 5.

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

Where can I find additional information about SGCD?

You and your healthcare professional may find the following resources about SGCD 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 SGCD gene or gene products?

  • 35DAG
  • 35 kDa dystrophin-associated glycoprotein
  • 35kD dystrophin-associated glycoprotein
  • CMD1L
  • DAGD
  • delta-sarcoglycan
  • delta-SG
  • LGMD2F
  • MGC22567
  • placental delta sarcoglycan
  • sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
  • SGD
  • SG-delta

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 SGCD?

References (13 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: February 8, 2016