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Center for Nephrology and Metabolic Disorders
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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 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hereditary renal amyloidosis
APOA1
Apolipoprotein A-2 amyloidosis
APOA2
B2M
CST3
FGA
LYZ

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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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6.

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

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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.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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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14.

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

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15.

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

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16.

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

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17.

NCBI article

NCBI 4069 external link
18.

OMIM.ORG article

Omim 153450 external link
19.

Orphanet article

Orphanet ID 123322 external link
20.

Wikipedia article

Wikipedia EN (Lysozyme) external link
Update: Aug. 14, 2020
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