Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Lysozym

Das LYZ-Gen kodiert Lysozym, ein Enzym, welches für die natürliche Abwehr von bakteriellen Infektionen verantwortlich ist, weil es die Zellwand von verschiedenen Bakterien auflösen kann. Mutationen führen zur autosomal dominanten Erkrankung der vizeralen Amyloidose.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Nierenamyloidose
APOA1
Apolipoprotine A2-Amyloidose
APOA2
B2M
CST3
FGA
LYZ

Referenzen:

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 Artikel

Wikipedia DE (Lysozym) external link
Update: 14. August 2020
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