Gene: LOC105369705

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs12829457 in LOC105369705;SSPN gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.