Gene: KLKB1

Alternate names for this Gene: KLK3|PKK|PKKD|PPK

Gene Summary: This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 4

Location in Chromosome : 4q35.2

Description of this Gene: kallikrein B1

Type of Gene: protein-coding

rs2304595 in KLKB1 gene and Activated Partial Thromboplastin Time measurement PMID 23188048 2013 A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs3733402 in KLKB1 gene and Amino acids measurement PMID 27005778 2016 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

rs10582034 in KLKB1 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.

rs1912826 in KLKB1 gene and Calcification of coronary artery PMID 22916037 2012 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.

rs4253248 in KLKB1 gene and Cardiac troponin I measurement PMID 31014085 2019 Cardiac Troponin T and Troponin I in the General Population.

rs4253252 in KLKB1 gene and Glucose measurement PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.

rs1912826 in KLKB1 gene and Glycine measurement PMID 30837465 2019 Assessing the causal association of glycine with risk of cardio-metabolic diseases.

rs4253283 in KLKB1 gene and Interleukin 16 Measurement PMID 27989323 2017 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

rs1912826 in KLKB1 gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs121964951 in KLKB1 gene and Prekallikrein deficiency PMID 17598838 2007 A new type of plasma prekallikrein deficiency associated with homozygosity for Gly104Arg and Asn124Ser in apple domain 2 of the heavy-chain region.

PMID 14652634 2003 Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr).

PMID 12871337 2003 Prekallikrein (PK) Tokushima: PK deficiency caused by a Gly401-->Glu mutation.

rs3733402 in KLKB1 gene and Protein measurement PMID 27005778 2016 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

rs11132382 in KLKB1 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

PMID 24625756 2014 Genetic determinants influencing human serum metabolome among African Americans.

rs3087505 in KLKB1 gene and Venous Thromboembolism PMID 22672568 2012 A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.

rs4253252 in KLKB1 gene and elevated blood glucose level PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.