Gene: SSPN

Alternate names for this Gene: DAGA5|KRAG|NSPN|SPN1|SPN2

Gene Summary: This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The 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. Two alternatively spliced transcript variants that encode different protein isoforms have been described.

Gene is located in Chromosome: 12

Location in Chromosome : 12p12.1

Description of this Gene: sarcospan

Type of Gene: protein-coding

rs113819537 in SSPN gene and Atrial Fibrillation PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

rs11048425 in SSPN gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.