Entity Details

Primary name SGCD_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ92629
EntryNameSGCD_HUMAN
FullNameDelta-sarcoglycan
TaxID9606
Evidenceevidence at protein level
Length289
SequenceStatuscomplete
DateCreated2001-04-27
DateModified2021-06-02

Ontological Relatives

GenesSGCD

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0007517 muscle organ development
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016012 sarcoglycan complex
GO:0016021 integral component of membrane
GO:0042383 sarcolemma
GO:0048738 cardiac muscle tissue development
GO:0060047 heart contraction

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm

Domains

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DomainNameCategoryType
IPR006875 Sarcoglycan complex subunit proteinFamilyFamily
IPR027661 Delta-sarcoglycanFamilyFamily
IPR039972 Sarcoglycan gamma/delta/zetaFamilyFamily

Diseases

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Disease IDSourceNameDescription
601287 OMIMMuscular dystrophy, limb-girdle, autosomal recessive 6 (LGMDR6)An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex. The disease is caused by variants affecting the gene represented in this entry.
606685 OMIMCardiomyopathy, dilated 1L (CMD1L)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions