Gene Symbol | KNG1 |
Entrez Gene ID | 3827 |
Full Name | kininogen 1 |
Synonyms | BDK,BK,KNG |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin, a peptide causing numerous physiological effects, is released from HMWK. Bradykinin also functions as an antimicrobial peptide with antibacterial and antifungal activity. In contrast to HMWK, LMWK is not involved in blood coagulation. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2014]. |
Disorder MIM: | |
Disorder Html: | [Kininogen deficiency], 228960 (3); [High molecular weight kininogen deficiency], 228960 (3) |