GeneID: 298



Names

Common Name: KNG1 Type: Gene
Chromosome: 3 (NC_000003.12) Locus: NG_016009.1 (KNG1)
HUGO Symbol: KNG1 Full Name: kininogen 1
Exons: 10 Introns: 9

Description:
The KNG1 gene generates both high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK) through alternative splicing. Both HMWK and LMWK contain an identical heavy chain consisting of protein domains 1, 2, and 3. However, HMWK contains a 56-kD light chain that consists of domains 5 and 6H, whereas LMWK contains a unique 4-kD light chain that consists of domain 5L. In both proteins, the heavy and light chains are linked by domain 4, which contains the bradykinin (BK) nonapeptide. BK, which is released by plasma kallikrein, is a potent inflammatory mediator that causes vasodilation and enhanced capillary permeability, induces pain, and stimulates production of nitric oxide and prostacyclin from endothelial cells. Plasma HMWK contributes to induced arterial thrombosis in mice. Genetic variance in KNG1 gene is associated with acute chest syndrome (ACS) in patients with sickle cell disease. ACS is a form of acute lung injury caused by vaso-occlusion within the pulmonary microvasculature. Etiologies either trigger vaso-occlusion (e.g., infection, asthma, hypoventilation) or are a result of vaso-occlusion (e.g., bone marrow and fat emboli).

Synonyms: BK

Comments:
N/A

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Publications / Origin

  1. Melton CW, Haynes J, Sickle acute lung injury: role of prevention and early aggressive intervention strategies on outcome., Clin. Chest Med., 27(3), 487-502, vii, 2006 PubMed
  2. Merkulov S, Zhang WM, Komar AA, Schmaier AH, Barnes E, Zhou Y, Lu X, Iwaki T, Castellino FJ, Luo G, McCrae KR, Deletion of murine kininogen gene 1 (mKng1) causes loss of plasma kininogen and delays thrombosis., Blood, 111(3), 1274-81, 2008 PubMed
  3. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013 PubMed
Created on 2019-10-03 12:48:20, Last reviewed on (Show full history)


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