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MIM.153450 Chr.12

Tuesday 5 February 2008

Lysozyme (EC catalyzes the hydrolysis of certain mucopolysaccharides of bacterial cell walls.

Specifically, the lysozyme catalyzes the hydrolysis of the bacterial cell wall beta(1-4) glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine.

It is found in spleen, lung, kidney, white blood cells, plasma, saliva, milk, and tears.

Lysozyme (LYZ) consists of a single polypeptide with a predominantly helical structure.


Four pathogenic variants of lysozyme have been reported; a fifth variant, Thr70Asn, is apparently not pathogenic.

- hereditary lysozyme amyloidosis or familial visceral amyloidosis (amyloidosis type 8 or amyloidosis VIII) (MIM.105200)

  • hereditary visceral amyloidosis (hereditary nonneuropathic systemic amyloidosis) (MIM.105200)
  • autosomal dominant hereditary amyloidosis with early sicca syndrome and nephropathy (MIM.105200)
  • autosomal dominant renal amyloidosis (MIM.105200)


- Canet, D.; Sunde, M.; Last, A. M.; Miranker, A.; Spencer, A.; Robinson, C. V.; Dobson, C. M. : Mechanistic studies of the folding of human lysozyme and the origin of amyloidogenic behavior in its disease-related variants. Biochemistry 38: 6419-6427, 1999. PubMed ID : 10350460

- Gillmore, J. D.; Booth, D. R.; Madhoo, S.; Pepys, M. B.; Hawkins, P. N. :
Hereditary renal amyloidosis associated with variant lysozyme in a large English family. Nephrol. Dial. Transplant. 14: 2639-2644, 1999.
PubMed ID : 10534505

- Granel, B.; Serratrice, J.; Disdier, P.; Weiller, P.-J.; Valleix, S.; Grateau, G.; Droz, D. : Underdiagnosed amyloidosis: amyloidosis of lysozyme variant. (Letter) Am. J. Med. 118: 321-323, 2005. PubMed ID : 5745733

- Granel, B.; Serratrice, J.; Valleix, S.; Grateau, G.; Droz, D.; Lafon, J.; Sault, M.-C.; Chaudier, B.; Disdier, P.; Laugier, R.; Delpech, M.; Weiller, P.-J. : A family with gastrointestinal amyloidosis associated with variant lysozyme. Gastroenterology 123: 1346-1349, 2002. PubMed ID : 12360495

- Granel, B.; Valleix, S.; Serratrice, J.; Cherin, P.; Texeira, A.; Disdier, P.; Weiller, P.-J.; Grateau, G. : Lysozyme amyloidosis: report of 4 cases and a review of the literature. Medicine 85: 66-73, 2006. PubMed ID : 16523055

- Harrison, R. F.; Hawkins, P. N.; Roche, W. R.; MacMahon, R. F. T.; Hubscher, S. G.; Buckels, J. A. C. : ’Fragile’ liver and massive hepatic haemorrhage due to hereditary amyloidosis. Gut 38: 151-152, 1996. PubMed ID : 8566845

- Pepys, M. B.; Hawkins, P. N.; Booth, D. R.; Vigushin, D. M.; Tennent, G. A.; Soutar, A. K.; Totty, N.; Nguyen, O.; Blake, C. C. F.; Terry, C. J.; Feest, T. G.; Zalin, A. M.; Hsuan, J. J. : Human lysozyme gene mutations cause hereditary systemic amyloidosis. Nature 362: 553-557, 1993. PubMed ID : 8464497