SGCB sarcoglycan beta

Gene ID: 6443, updated on 5-Mar-2024
Gene type: protein coding
Also known as: A3b; SGC; LGMD2E; LGMDR4

Summary

This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive limb-girdle muscular dystrophy type 2E MedGen: C1858593OMIM: 604286GeneReviews: Not available	See labs
Limb-girdle muscular dystrophy MedGen: C0686353GeneReviews: Not available	See labs

Genomic context

Location:: 4q12

Sequence:: Chromosome: 4; NC_000004.12 (52020706..52038299, complement)

Total number of exons:: 7

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SGCB variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SGCB homepage - Leiden Muscular Dystrophy pages
Variation Viewer
Related Variants

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