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SGCG

sarcoglycan gamma

The SGCG gene provides instructions for a protein called gamma-sarcoglycan, which is crucial for maintaining the structural integrity of muscle cells. The SGCG gene produces a component of the sarcoglycan protein complex, located in the membrane surrounding muscle cells.

Chromosome 13q12.12 Autosomal recessive HGNC:10809 Tier C
SGCG 13q12.12 p arm q arm 13

SGCG is located on the long (q) arm of chromosome 13, at band 13q12.12. Arm ratio per GRCh38 - banding schematic.

Explore chromosome 13 in the library →

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Clinical tests that include this

Carrier Screening panel
SGCG is 1 of 1,008 genes on this panel
Expanded carrier screening for recessive and X-linked conditions

Overview

The SGCG gene, also known as sarcoglycan gamma, is responsible for producing the gamma-sarcoglycan protein. This protein is a key part of the sarcoglycan complex, a group of proteins found within the membrane of muscle cells. The proper functioning of SGCG is essential for maintaining the structure and strength of muscle tissue, particularly during the repeated movements of muscle contraction and relaxation.

What the gene does

The SGCG gene directs the synthesis of the gamma component of the sarcoglycan protein complex. This complex is situated within the membrane that encloses muscle cells. Its primary role involves connecting to and stabilising the dystrophin complex, a larger assembly of proteins including dystrophins and dystroglycans. This connection is critical for strengthening muscle fibres and shielding them from injury that can occur as muscles contract and relax. Essentially, the sarcoglycan and dystrophin complexes act as an anchoring system, linking the internal structural framework (cytoskeleton) of each muscle cell to the surrounding network of proteins and molecules (extracellular matrix). This comprehensive structure is vital for the mechanical stability of muscle tissue.

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Chromosome location

The SGCG gene is located on chromosome 13, specifically at position 13q12.12. This address refers to the long (q) arm of chromosome 13, within band 12.12. Understanding the chromosomal location helps in mapping genes and identifying genetic changes that may affect their function.

Protein structure

The SGCG gene codes for a protein that is 291 amino acids in length. Domain architecture has not been experimentally characterised in detail for this protein.

Key variants

Genetic variations within the SGCG gene can alter the function or production of the gamma-sarcoglycan protein. These changes, known as pathogenic variants, can disrupt the structural integrity of muscle cells. The impact of such variants depends on their specific nature and location within the gene.

The table below shows the top 10 pathogenic or likely-pathogenic variants currently classified in ClinVar for SGCG.
View all on ClinVar →

Sample of pathogenic variants

10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.

Variant (HGVS) Protein change Classification Evidence Associated condition
c.195+4_195+7del
Microsatellite
 - Pathogenic ★★★☆ Autosomal recessive limb-girdle muscular dystrophy type 2C
c.525del
Deletion
 p.Phe175fs Pathogenic ★★★☆ Autosomal recessive limb-girdle muscular dystrophy
c.526G>T
single nucleotide variant
 p.Glu176Ter Pathogenic ★★★☆ Autosomal recessive limb-girdle muscular dystrophy
c.579-2A>G
single nucleotide variant
 - Pathogenic ★★★☆ Autosomal recessive limb-girdle muscular dystrophy
c.787G>A
single nucleotide variant
 p.Glu263Lys Pathogenic ★★★☆ Autosomal recessive limb-girdle muscular dystrophy
c.848G>A
single nucleotide variant
 p.Cys283Tyr Pathogenic ★★★☆ Autosomal recessive limb-girdle muscular dystrophy
c.87dup
Duplication
 p.Gly30fs Pathogenic ★★★☆ Autosomal recessive limb-girdle muscular dystrophy
c.216T>A
single nucleotide variant
 p.Cys72Ter Pathogenic/Likely pathogenic ★★☆☆ Autosomal recessive limb-girdle muscular dystrophy type 2C
c.298-2A>G
single nucleotide variant
 - Pathogenic/Likely pathogenic ★★☆☆ Autosomal recessive limb-girdle muscular dystrophy type 2C
c.320C>T
single nucleotide variant
 p.Ser107Leu Pathogenic/Likely pathogenic ★★☆☆ Autosomal recessive limb-girdle muscular dystrophy type 2C

Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.

Associated conditions

Pathogenic variants in the SGCG gene are primarily associated with a group of inherited muscle disorders. These conditions typically affect muscle strength and function, leading to progressive muscle weakness. The specific clinical presentation can vary depending on the nature of the genetic variant.

No disease links recorded for this gene in our reference set.

Inheritance pattern

Conditions caused by pathogenic SGCG variants typically follow autosomal recessive inheritance.

♀ Carrier parent 1 altered copy ♂ Carrier parent 1 altered copy Affected Carrier Carrier Unaffected Affected Carrier Unaffected Circles = females · Squares = males

When both parents are carriers, each child has a 25% chance of being affected, 50% of being a carrier, and 25% of being unaffected.

Carrier frequency by population How common is heterozygous SGCG carrier status across ancestry groups?

UK clinical status

The SGCG gene is included in several NHS Genomic Medicine Service national test panels. It is listed on the 'Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies' panel (R82) and the 'Paediatric or syndromic cardiomyopathy' panel (R135), both with a 'green' status, indicating strong evidence for its gene-disease association in these contexts.

Green-listed
High evidence · clinically actionable in NHS testing
Included in NHS GMS signed-off panels
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies · R82 NHS GMS → Paediatric or syndromic cardiomyopathy · R135 NHS GMS →
NHS Genomic Medicine Service Jeen carrier screening

Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory

Frequently asked questions

What does the SGCG gene do?

The SGCG gene provides instructions for making gamma-sarcoglycan, a protein that is part of a complex in muscle cell membranes. This complex helps maintain the structure of muscle tissue and protects muscle fibres from injury during contraction.

What happens if there is a change in the SGCG gene?

Changes, or pathogenic variants, in the SGCG gene can lead to problems with the structure and stability of muscle cells. This can result in conditions characterised by progressive muscle weakness and damage.

How is SGCG related to muscle function?

SGCG is vital for muscle function because its protein product helps anchor the muscle cell's internal framework to its external surroundings. This connection strengthens muscle fibres and prevents damage when muscles are used.

References

  1. Broglio L, Tentorio M, Cotelli MS. Limb-girdle muscular dystrophy-associated protein diseases. The neurologist. 2010. PMID: 21150381
  2. Sandonà D, Betto R. Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. Expert reviews in molecular medicine. 2009. PMID: 19781108
  3. Trabelsi M, Kavian N, Daoud F. Revised spectrum of mutations in sarcoglycanopathies. European journal of human genetics : EJHG. 2008. PMID: 18285821
  4. Guglieri M, Straub V, Bushby K. Limb-girdle muscular dystrophies. Current opinion in neurology. 2008. PMID: 18769252
  5. Meena AK, Sreenivas D, Sundaram C. Sarcoglycanopathies: a clinico-pathological study. Neurology India. 2007. PMID: 17558114
  6. Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. Seminars in pediatric neurology. 2006. PMID: 17027860
  7. Ozawa E, Mizuno Y, Hagiwara Y. Molecular and cell biology of the sarcoglycan complex. Muscle & nerve. 2005. PMID: 15937871
  8. Georgieva B, Todorova A, Tournev I. C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community. Clinical genetics. 2004. PMID: 15479193
  9. Bönnemann CG, Wong J, Jones KJ. Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. Neuromuscular disorders : NMD. 2002. PMID: 11801399
  10. Hack AA, Groh ME, McNally EM. Sarcoglycans in muscular dystrophy. Microscopy research and technique. 2000. PMID: 10679964
Educational content. This page is not medical or genetic advice, is not individually reviewed by a clinician for each reader, and should not replace a consultation with a qualified healthcare professional or genetic counsellor. If you are considering genetic testing or acting on a test result, book a consultation.
Data sources Last updated 11 October 2026. Content compiled from HGNC · MedlinePlus Genetics · ClinGen · Genomics England PanelApp · NHS National Genomic Test Directory · ClinVar · UniProt · AlphaFold .