Gene: C1S

Alternate names for this Gene: EDSPD2

Gene Summary: This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.31

Description of this Gene: complement C1s

Type of Gene: protein-coding

rs7962629 in C1S gene and Activated Partial Thromboplastin Time measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs10849546 in C1S gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs11838267 in C1S gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs886040975 in C1S gene and EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 PMID 27745832 2016 Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.