Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Lysozyme

The LYZ gene encodes human lysozyme, an enzyme that is involved in natural defense of bacterial infections, as it cleaves some components found in bacterial walls. Mutations cause autosomal dominant visceral amyloidosis.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Hereditary renal amyloidosis
APOA1
B2M
CST3
FGA
LYZ

References:

1.

Canet D et al. (1999) Mechanistic studies of the folding of human lysozyme and the origin of amyloidogenic behavior in its disease-related variants.

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2.

Gillmore JD et al. (1999) Hereditary renal amyloidosis associated with variant lysozyme in a large English family.

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3.

Greenwald RA et al. (1975) Composition of cartilage from lysozyme-deficient rabbits.

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4.

Valleix S et al. (2002) Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family.

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5.

Granel B et al. (2002) A family with gastrointestinal amyloidosis associated with variant lysozyme.

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6.

Yazaki M et al. (2003) A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis.

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7.

Dumoulin M et al. (2003) A camelid antibody fragment inhibits the formation of amyloid fibrils by human lysozyme.

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8.

Granel B et al. (2005) Underdiagnosed amyloidosis: amyloidosis of lysozyme variant.

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9.

Granel B et al. (2006) Lysozyme amyloidosis: report of 4 cases and a review of the literature.

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10.

Zalin AM et al. (1991) Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry.

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11.

Taniyama Y et al. (1991) Evidence for intramolecular disulfide bond shuffling in the folding of mutant human lysozyme.

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12.

Cámara VM et al. (1990) Inherited lysozyme deficiency in rabbits. The absence of a primary isozyme of lysozyme as the cause of the condition.

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13.

Yoshimura K et al. (1988) Human lysozyme: sequencing of a cDNA, and expression and secretion by Saccharomyces cerevisiae.

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14.

Prieur DJ et al. (1974) Lysozyme deficiency-an inherited disorder of rabbits.

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15.

Pepys MB et al. (1993) Human lysozyme gene mutations cause hereditary systemic amyloidosis.

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16.

Harrison RF et al. (1996) 'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis.

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Update: Sept. 26, 2018