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

Gene: BHLHE41

Alternate names for this Gene: BHLHB3|DEC2|FNSS1|SHARP1|hDEC2

Gene Summary: This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype.

Gene is located in Chromosome: 12

Location in Chromosome : 12p12.1

Description of this Gene: basic helix-loop-helix family member e41

Type of Gene: protein-coding

rs200855945 in SSPN;BHLHE41 gene and Major Depressive Disorder PMID 27622933 2016 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response.

rs200855945 in SSPN;BHLHE41 gene and Mood Disorders PMID 27622933 2016 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response.

rs200855945 in SSPN;BHLHE41 gene and Unipolar Depression PMID 27622933 2016 Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response.