This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014]

LYZ: Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte- macrophage system and enhance the activity of immunoagents. Defects in LYZ are a cause of amyloidosis type 8 (AMYL8); also known as systemic non-neuropathic amyloidosis or Ostertag-type amyloidosis. AMYL8 is a hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are particularly affected. There is no involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. Belongs to the glycosyl hydrolase 22 family.

Protein type: EC 3.2.1.17; Vesicle; Secreted; Endoplasmic reticulum; Hydrolase; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 12q15

Cellular Component: extracellular space; extracellular region

Molecular Function: identical protein binding; lysozyme activity

Biological Process: retinal homeostasis; metabolic process; cytolysis; defense response to bacterium; inflammatory response

Disease: Amyloidosis, Familial Visceral