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 |
Verknüpfte Erkrankungen:
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
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18. |
OMIM.ORG article
Omim 153450
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19. |
Orphanet article
Orphanet ID 123322
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20. |
Wikipedia Artikel
Wikipedia DE (Lysozym)
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Update: 14. August 2020