SGCG

Chr 13AR

sarcoglycan gamma

Also known as: 35DAG, A4, DAGA4, DMDA, DMDA1, LGMD2C, LGMDR5, MAM

NCBI Gene: 6445ENSG00000102683UniProt: Q13326

This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]

Primary Disease Associations & Inheritance

Muscular dystrophy, limb-girdle, autosomal recessive 5MIM #253700
AR
731
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
1
Active trials
Clinical Summary— SGCG
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
731 total variants — no pathogenic classifications of 731 total submissions
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.05LOEUF
pLI 0.000
Z-score 1.44
OE 0.60 (0.36–1.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.13Z-score
OE missense 1.03 (0.91–1.17)
168 obs / 163.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.60 (0.36–1.05)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.03 (0.91–1.17)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.18
0≤1.21.6
LoF obs/exp: 9 / 15.0Missense obs/exp: 168 / 163.2Syn Z: -1.14

ClinVar Variant Classifications

731 submitted variants in ClinVar

ClinVar

Classification Summary

Protein Context — Lollipop Plot

SGCG · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
SARCOGLYCAN, GAMMA; SGCG
MIM #608896 · *

Muscular dystrophy, limb-girdle, autosomal recessive 5

MIM #253700

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Sarcoglycanopathies: an update.
Vainzof M et al.·Neuromuscul Disord
2021Review
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L et al.·Clin Genet
2019Cohort
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J et al.·Brain
2020Cohort
Biochemical and Functional Comparisons of mdx and Sgcg(-/-) Muscular Dystrophy Mouse Models.
Roberts NW et al.·Biomed Res Int
2015Functional
Sarcoglycanopathies: From clinical diagnosis to new promising therapies.
Borland H et al.·J Neuromuscul Dis
2025Review
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.
Doody A et al.·BMC Neurol
2024
A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With Sarcoglycanopathy.
Sezer A et al.·Clin Genet
2026Cohort
Comparative genomic analyses of multiple backcross mouse populations suggest SGCG as a novel potential obesity-modifier gene.
Kuhn T et al.·Hum Mol Genet
2022Functional
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
Shimazaki R et al.·Orphanet J Rare Dis
2025Cohort
Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
Pluta N et al.·Genes (Basel)
2022
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
LGMD2C

ATA-200 Gene Therapy Trial in Patients With LGMDR5

ACTIVE NOT RECRUITING
NCT05973630Phase PHASE1Atamyo TherapeuticsStarted 2025-02-15
ATA-200

External Resources

Links to major genomics databases and tools