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SGCD

sarcoglycan delta

The SGCD gene provides instructions for making delta-sarcoglycan, a protein essential for maintaining the structural integrity of muscle cells. The SGCD gene encodes the delta-sarcoglycan protein, a key part of the sarcoglycan complex within muscle cell membranes.

Chromosome 5q33.2-q33.3 Autosomal recessive HGNC:10807 Tier C
SGCD 5q33.2-q33.3 p arm q arm 5

SGCD is located on the long (q) arm of chromosome 5, at band 5q33.2-q33.3. Arm ratio per GRCh38 - banding schematic.

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Clinical tests that include this

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

Overview

The SGCD gene, also known as sarcoglycan delta, plays a crucial role in muscle function. It provides the genetic blueprint for a protein called delta-sarcoglycan, which is an integral component of the sarcoglycan protein complex. This complex is located in the membrane surrounding muscle cells, where it contributes to muscle structure and stability.

Pathogenic variants in the SGCD gene are associated with inherited muscle conditions, particularly limb-girdle muscular dystrophy. Understanding the SGCD gene's function is important for comprehending the mechanisms underlying these muscle disorders.

What the gene does

The SGCD gene's primary function is to direct the production of delta-sarcoglycan, one of the four core components of the sarcoglycan protein complex (alpha, beta, gamma, and delta). This complex is situated in the sarcolemma, which is the cell membrane of muscle fibres. Within this membrane, the sarcoglycan complex is closely associated with the larger dystrophin-glycoprotein complex.

The main role of the sarcoglycan complex is to help maintain the structural integrity of muscle tissue. It achieves this by binding to and stabilising the dystrophin complex. The dystrophin complex acts as a crucial link, connecting the internal structural framework of a muscle cell (cytoskeleton) to the external network of proteins and molecules (extracellular matrix). This connection helps strengthen muscle fibres and protects them from injury that can occur during the repeated cycles of muscle contraction and relaxation.

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Chromosome location

The SGCD gene is located on the long arm of chromosome 5, specifically at position 5q33.2-q33.3. This region of the human genome contains various genes, and the precise localisation of SGCD helps in understanding its genetic context and potential interactions with neighbouring genes.

Protein structure

The delta-sarcoglycan protein, encoded by the SGCD gene, consists of 289 amino acids. Domain architecture has not been experimentally characterised in detail for this protein.

Key variants

Variants within the SGCD gene can alter the function or production of the delta-sarcoglycan protein. These genetic changes can range from single nucleotide substitutions to larger deletions or insertions. Such alterations may impair the protein's ability to properly integrate into the sarcoglycan complex or to perform its stabilising role within muscle cell membranes, leading to muscle dysfunction.

The table below shows the top 10 pathogenic or likely-pathogenic variants currently classified in ClinVar for SGCD.
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.289C>T
single nucleotide variant
 p.Arg97Ter Pathogenic ★★★☆ Autosomal recessive limb-girdle muscular dystrophy
c.493C>T
single nucleotide variant
 p.Arg165Ter Pathogenic ★★★☆ Autosomal recessive limb-girdle muscular dystrophy
c.10C>T
single nucleotide variant
 p.Gln4Ter Pathogenic/Likely pathogenic ★★☆☆ Autosomal recessive limb-girdle muscular dystrophy type 2F
c.133_172dup
Duplication
 p.Lys58fs Pathogenic ★★☆☆ Autosomal recessive limb-girdle muscular dystrophy type 2F
c.248_249del
Microsatellite
 p.Asp82_Ser83insTer Pathogenic ★★☆☆ Autosomal recessive limb-girdle muscular dystrophy type 2F
c.354_358del
Deletion
 p.Thr119fs Pathogenic ★★☆☆ Dilated cardiomyopathy 1L
c.390del
Deletion
 p.Ala131fs Pathogenic/Likely pathogenic ★★☆☆ Neuromuscular disease
c.441dup
Duplication
 p.Leu148fs Pathogenic/Likely pathogenic ★★☆☆ Autosomal recessive limb-girdle muscular dystrophy type 2F
c.65dup
Duplication
 p.Tyr23fs Pathogenic ★★☆☆ Autosomal recessive limb-girdle muscular dystrophy type 2F
c.97C>T
single nucleotide variant
 p.Arg33Ter Pathogenic/Likely pathogenic ★★☆☆ SGCD-related disorder

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 SGCD gene are primarily associated with certain inherited muscle disorders. These include forms of limb-girdle muscular dystrophy, which typically presents with progressive weakness and wasting of muscles closest to the body, such as those in the shoulders and hips. In some cases, SGCD variants have also been identified in individuals with dilated cardiomyopathy, a condition affecting the heart muscle.

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

Inheritance pattern

Conditions caused by pathogenic SGCD 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 SGCD carrier status across ancestry groups?

UK clinical status

The SGCD gene is included in several UK NHS national genomic testing panels. It is listed as 'green' for the Dilated Cardiomyopathy and conduction defects panel, indicating strong evidence for its association with this condition. Similarly, it is 'green' for the Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies panel (R82), reflecting its established role in these muscle disorders.

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 →
NHS Genomic Medicine Service Jeen carrier screening

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

Frequently asked questions

What is the function of the SGCD gene?

The SGCD gene provides instructions for making delta-sarcoglycan, a component of the sarcoglycan protein complex. This complex is crucial for maintaining the structural integrity of muscle cells by linking the internal cell structure to the extracellular matrix.

What conditions are associated with variants in the SGCD gene?

Variants in the SGCD gene are primarily associated with certain types of limb-girdle muscular dystrophy. In some individuals, SGCD variants have also been linked to dilated cardiomyopathy, which affects the heart muscle.

How is delta-sarcoglycan related to muscle strength?

Delta-sarcoglycan, as part of the sarcoglycan complex, helps stabilise the dystrophin complex in muscle cell membranes. This complex acts as an anchor, strengthening muscle fibres and protecting them from injury that can occur during muscle contraction and relaxation.

References

  1. Broglio L, Tentorio M, Cotelli MS. Limb-girdle muscular dystrophy-associated protein diseases. The neurologist. 2010. PMID: 21150381
  2. Bauer R, Hudson J, Müller HD. Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? European journal of human genetics : EJHG. 2009. PMID: 19259135
  3. Sandonà D, Betto R. Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. Expert reviews in molecular medicine. 2009. PMID: 19781108
  4. Trabelsi M, Kavian N, Daoud F. Revised spectrum of mutations in sarcoglycanopathies. European journal of human genetics : EJHG. 2008. PMID: 18285821
  5. Guglieri M, Straub V, Bushby K. Limb-girdle muscular dystrophies. Current opinion in neurology. 2008. PMID: 18769252
  6. Meena AK, Sreenivas D, Sundaram C. Sarcoglycanopathies: a clinico-pathological study. Neurology India. 2007. PMID: 17558114
  7. Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. Seminars in pediatric neurology. 2006. PMID: 17027860
  8. Ozawa E, Mizuno Y, Hagiwara Y. Molecular and cell biology of the sarcoglycan complex. Muscle & nerve. 2005. PMID: 15937871
  9. Guglieri M, Magri F, Comi GP. Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities. Clinica chimica acta; international journal of clinical chemistry. 2005. PMID: 16002060
  10. Hack AA, Groh ME, McNally EM. Sarcoglycans in muscular dystrophy. Microscopy research and technique. 2000. PMID: 10679964
  11. Tsubata S, Bowles KR, Vatta M. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. The Journal of clinical investigation. 2000. PMID: 10974018
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 .