KLKB1 Chromosome 4
Kallikrein B1
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What This Gene Does
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. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Kallikreins
Locus Type
gene with protein product
Location
4q35.2
Ensembl
ENSG00000164344
Associated Conditions (3)
Prekallikrein deficiency
Inherited prekallikrein deficiency
KLKB1-related disorder
Key Variants
RS121964951
Conflicting classifications of pathogenicity
Prekallikrein deficiency, Inherited prekallikrein deficiency, Prekallikrein deficiency
Health Risk
RS4253373
Conflicting classifications of pathogenicity
KLKB1-related disorder, KLKB1-related disorder
Health Risk
RS560588447
Conflicting classifications of pathogenicity
Inherited prekallikrein deficiency, Prekallikrein deficiency, KLKB1-related disorder
Health Risk
RS142420360
Likely pathogenic
Inherited prekallikrein deficiency, Inherited prekallikrein deficiency
Health Risk
RS2477040195
Likely pathogenic
Inherited prekallikrein deficiency, Inherited prekallikrein deficiency
Health Risk
RS2477042297
Likely pathogenic
KLKB1-related disorder, KLKB1-related disorder
Health Risk
RS771385385
Likely pathogenic
Inherited prekallikrein deficiency, Inherited prekallikrein deficiency
Health Risk
RS121964949
Pathogenic
Prekallikrein deficiency, Prekallikrein deficiency
Health Risk
RS121964950
Pathogenic
Prekallikrein deficiency, Prekallikrein deficiency
Health Risk
RS121964952
Pathogenic
Prekallikrein deficiency, Prekallikrein deficiency
Health Risk
RS1303557405
Pathogenic
Inherited prekallikrein deficiency, Inherited prekallikrein deficiency
Health Risk
RS2476905568
Pathogenic
Inherited prekallikrein deficiency, Inherited prekallikrein deficiency
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121964951 | Health Risk | Conflicting classifications of pathogenicity | Prekallikrein deficiency, Inherited prekallikrein deficiency, Prekallikrein deficiency |
| RS4253373 | Health Risk | Conflicting classifications of pathogenicity | KLKB1-related disorder, KLKB1-related disorder |
| RS560588447 | Health Risk | Conflicting classifications of pathogenicity | Inherited prekallikrein deficiency, Prekallikrein deficiency, KLKB1-related disorder |
| RS142420360 | Health Risk | Likely pathogenic | Inherited prekallikrein deficiency, Inherited prekallikrein deficiency |
| RS2477040195 | Health Risk | Likely pathogenic | Inherited prekallikrein deficiency, Inherited prekallikrein deficiency |
| RS2477042297 | Health Risk | Likely pathogenic | KLKB1-related disorder, KLKB1-related disorder |
| RS771385385 | Health Risk | Likely pathogenic | Inherited prekallikrein deficiency, Inherited prekallikrein deficiency |
| RS121964949 | Health Risk | Pathogenic | Prekallikrein deficiency, Prekallikrein deficiency |
| RS121964950 | Health Risk | Pathogenic | Prekallikrein deficiency, Prekallikrein deficiency |
| RS121964952 | Health Risk | Pathogenic | Prekallikrein deficiency, Prekallikrein deficiency |
| RS1303557405 | Health Risk | Pathogenic | Inherited prekallikrein deficiency, Inherited prekallikrein deficiency |
| RS2476905568 | Health Risk | Pathogenic | Inherited prekallikrein deficiency, Inherited prekallikrein deficiency |
| RS186254196 | Health Risk | Pathogenic/Likely pathogenic | Prekallikrein deficiency, Inherited prekallikrein deficiency, Prekallikrein deficiency |
| RS768319200 | Health Risk | Pathogenic/Likely pathogenic | Inherited prekallikrein deficiency, KLKB1-related disorder, Inherited prekallikrein deficiency |