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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SGCD
sarcoglycan delta
Chromosome 5 Β· 5q33.2-q33.3
NCBI Gene: 6444Ensembl: ENSG00000170624.15HGNC: HGNC:10807UniProt: Q92629
61PubMed Papers
22Diseases
0Drugs
51Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
dystrophin-associated glycoprotein complexcardiac muscle tissue developmentheart contractionsarcoglycan complexautosomal recessive limb-girdle muscular dystrophy type 2Fdilated cardiomyopathy 1Lautosomal recessive limb-girdle muscular dystrophyschizophrenia
✦AI Summary

SGCD encodes delta-sarcoglycan, a critical component of the sarcoglycan complex within the dystrophin-glycoprotein complex (DGC) 1. This protein functions as a structural linker between the F-actin cytoskeleton and the extracellular matrix at the muscle sarcolemma, providing mechanical support during myofiber contraction 1. Mutations in SGCD cause LGMDR6 (limb-girdle muscular dystrophy autosomal recessive 6), one of four sarcoglycanopathies that constitute 10-25% of all autosomal recessive LGMDs 1. SGCD-related disease typically manifests in the first decade of life with muscle hypertrophy, elevated creatine kinase, progressive weakness, and variable ambulation loss 1. Cardiac and respiratory involvement occur across sarcoglycanopathy subtypes 2. Pathologically, SGCD deficiency destabilizes the DGC, rendering muscle fibers vulnerable to contraction-induced damage 3. Early dysregulation of ATX-LPA and YAP/TAZ signaling pathways promotes inflammation and fibrosis in SGCD-deficient skeletal muscle 3. Risk factors for early ambulation loss include symptom onset before age 10 and residual protein expression below 30% 4. Gene replacement therapy using adeno-associated virus vectors shows promise in preclinical models and ongoing human trials 1, 5.

Sources cited
1
SGCD encodes delta-sarcoglycan, a component of the dystrophin-glycoprotein complex that links cytoskeleton to extracellular matrix; SGCD mutations cause LGMDR6, a severe autosomal recessive LGMD with variable onset and progression
PMID: 34404573
2
SGCD deficiency destabilizes the DGC and leads to early dysregulation of ATX-LPA and YAP/TAZ signaling pathways that promote inflammation and fibrosis in skeletal muscle
PMID: 40050938
3
Sarcoglycanopathies including SGCD mutations demonstrate cardiac and respiratory involvement across subtypes
PMID: 30919934
4
Symptom onset before age 10 and residual protein expression <30% are independent risk factors for losing ambulation before age 18 in sarcoglycanopathy patients
PMID: 32875335
5
Gene replacement therapy using adeno-associated virus vectors for sarcoglycan proteins shows detectable protein expression and phenotypic improvement in animal models with ongoing human therapeutic trials
PMID: 34404573
6
Remaining sarcoglycan protein expression is a key factor correlating with disease progression in sarcoglycanopathies; clinical trials with gene therapy are underway for SGCD and other sarcoglycan subtypes
PMID: 40129306
Disease Associationsβ“˜22
autosomal recessive limb-girdle muscular dystrophy type 2FOpen Targets
0.78Strong
dilated cardiomyopathy 1LOpen Targets
0.73Strong
autosomal recessive limb-girdle muscular dystrophyOpen Targets
0.63Moderate
schizophreniaOpen Targets
0.42Moderate
dilated cardiomyopathyOpen Targets
0.41Moderate
Abnormality of the musculatureOpen Targets
0.41Moderate
cellulitisOpen Targets
0.40Moderate
post-traumatic stress disorderOpen Targets
0.40Weak
smoking cessationOpen Targets
0.40Weak
abscessOpen Targets
0.40Weak
familial isolated dilated cardiomyopathyOpen Targets
0.38Weak
limb-girdle muscular dystrophyOpen Targets
0.37Weak
neuromuscular diseaseOpen Targets
0.33Weak
salivary gland diseaseOpen Targets
0.32Weak
peripheral nervous system diseaseOpen Targets
0.32Weak
benign neoplasm of adrenal glandOpen Targets
0.30Weak
diabetic ketoacidosisOpen Targets
0.29Weak
head injuryOpen Targets
0.28Weak
anti-GAD65 autoimmune neurological syndromesOpen Targets
0.28Weak
immune system diseaseOpen Targets
0.27Weak
Cardiomyopathy, dilated, 1LUniProt
Muscular dystrophy, limb-girdle, autosomal recessive 6UniProt
Pathogenic Variants51
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|Autosomal recessive limb-girdle muscular dystrophy type 2F;Dilated cardiomyopathy 1L|not provided|Dilated cardiomyopathy 1L|Autosomal recessive limb-girdle muscular dystrophy
β˜…β˜…β˜…β˜†2025β†’ Residue 165
NM_000337.6(SGCD):c.289C>T (p.Arg97Ter)Pathogenic
not provided|Dilated cardiomyopathy 1L|Autosomal recessive limb-girdle muscular dystrophy type 2F|Autosomal recessive limb-girdle muscular dystrophy
β˜…β˜…β˜…β˜†2025β†’ Residue 97
NM_000337.6(SGCD):c.10C>T (p.Gln4Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|Autosomal recessive limb-girdle muscular dystrophy type 2F;Dilated cardiomyopathy 1L
β˜…β˜…β˜†β˜†2026β†’ Residue 4
NM_000337.6(SGCD):c.192+1G>ALikely pathogenic
Dilated cardiomyopathy 1L;Autosomal recessive limb-girdle muscular dystrophy type 2F|Autosomal recessive limb-girdle muscular dystrophy type 2F
β˜…β˜…β˜†β˜†2025
NM_000337.6(SGCD):c.65dup (p.Tyr23fs)Pathogenic
not provided|Autosomal recessive limb-girdle muscular dystrophy type 2F
β˜…β˜…β˜†β˜†2025β†’ Residue 23
NM_000337.6(SGCD):c.390del (p.Ala131fs)Pathogenic
Neuromuscular disease|Autosomal recessive limb-girdle muscular dystrophy type 2F
β˜…β˜…β˜†β˜†2025β†’ Residue 131
NM_000337.6(SGCD):c.441dup (p.Leu148fs)Pathogenic
Dilated cardiomyopathy 1L|Autosomal recessive limb-girdle muscular dystrophy type 2F
β˜…β˜…β˜†β˜†2024β†’ Residue 148
NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|Dilated cardiomyopathy 1L
β˜…β˜…β˜†β˜†2024β†’ Residue 82
NM_000337.6(SGCD):c.784G>A (p.Glu262Lys)Likely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|Dilated cardiomyopathy 1L
β˜…β˜…β˜†β˜†2024β†’ Residue 262
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|not provided|Autosomal recessive limb-girdle muscular dystrophy type 2F;Dilated cardiomyopathy 1L
β˜…β˜…β˜†β˜†2024β†’ Residue 33
NM_000337.6(SGCD):c.294+1G>ALikely pathogenic
Neuromuscular disease|Autosomal recessive limb-girdle muscular dystrophy type 2F;Dilated cardiomyopathy 1L|Autosomal recessive limb-girdle muscular dystrophy type 2F
β˜…β˜…β˜†β˜†2024
NM_000337.6(SGCD):c.354_358del (p.Thr119fs)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|Dilated cardiomyopathy 1L
β˜…β˜…β˜†β˜†2023β†’ Residue 119
NM_000337.6(SGCD):c.657del (p.Thr220fs)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|Dilated cardiomyopathy 1L
β˜…β˜…β˜†β˜†2023β†’ Residue 220
NM_000337.6(SGCD):c.4-1G>TLikely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F|Dilated cardiomyopathy 1L
β˜…β˜…β˜†β˜†2023
NM_000337.6(SGCD):c.491T>G (p.Leu164Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F
β˜…β˜†β˜†β˜†2026β†’ Residue 164
NM_000337.6(SGCD):c.466G>T (p.Glu156Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F
β˜…β˜†β˜†β˜†2025β†’ Residue 156
NM_000337.6(SGCD):c.90G>A (p.Trp30Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F
β˜…β˜†β˜†β˜†2025β†’ Residue 30
NM_000337.6(SGCD):c.506del (p.Ala169fs)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F
β˜…β˜†β˜†β˜†2025β†’ Residue 169
NM_000337.6(SGCD):c.382+2T>CLikely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2F
β˜…β˜†β˜†β˜†2024
NM_000337.6(SGCD):c.414del (p.Lys138fs)Likely pathogenic
Muscular dystrophy
β˜…β˜†β˜†β˜†2024β†’ Residue 138
View on ClinVar β†—
Related Genes
CSRP3Protein interaction100%FKTNProtein interaction98%FLNCProtein interaction98%LAMA2Protein interaction98%CAV3Protein interaction97%DAG1Protein interaction97%
Tissue Expression6 tissues
Heart
100%
Ovary
11%
Lung
7%
Brain
7%
Liver
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SGCDCSRP3FKTNFLNCLAMA2CAV3DAG1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q92629
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.88LoF Tolerant
pLIβ“˜
0.05Tolerant
Observed/Expected LoF0.50 [0.30–0.88]
RankingsWhere SGCD stands among ~20K protein-coding genes
  • #7,607of 20,598
    Most Researched61
  • #1,310of 5,498
    Most Pathogenic Variants51 Β· top quartile
  • #7,820of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedSGCD
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301486
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
Sarcoglycanopathies: an update.
PMID: 34404573
Neuromuscul Disord Β· 2021
0.80
4
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
PMID: 30919934
Clin Genet Β· 2019
0.70
5
Dysregulated ATX-LPA and YAP/TAZ signaling in dystrophic Sgcd
PMID: 40050938
Skelet Muscle Β· 2025
0.60