Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Vitamin K-abhängiges Protein Z

Das PROZ-Gen kodiert das Protein Z, einen Regulator des Gerinnungssystems. Zusammen mit dem vom SERPINA10-Gen kodierten Protease-Inhibitor hemmt diese Protein die aktivierten Gerinnungsfaktoren Xa und XIa. Inaktivierenden Mutationen können eine Thrombophilie begünstigen.

Gentests:

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

Verknüpfte Erkrankungen:

Protein Z-Mangel
PROZ
SERPINA10

Referenzen:

1.

Yin ZF et al. (2000) Prothrombotic phenotype of protein Z deficiency.

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2.

Vasse M et al. (2001) Frequency of protein Z deficiency in patients with ischaemic stroke.

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3.

None (2001) Protein Z-dependent regulation of coagulation.

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4.

Lichy C et al. (2004) A common polymorphism of the protein Z gene is associated with protein Z plasma levels and with risk of cerebral ischemia in the young.

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5.

Souri M et al. (2005) A naturally occurring E30Q mutation in the Gla domain of protein Z causes its impaired secretion and subsequent deficiency.

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6.

Santacroce R et al. (2006) Low protein Z levels and risk of occurrence of deep vein thrombosis.

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7.

Prowse CV et al. (1977) The isolation of a new warfarin-sensitive protein from bovine plasma.

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8.

Hogg PJ et al. (1991) Interaction of human protein Z with thrombin: evaluation of the species difference in the interaction between bovine and human protein Z and thrombin.

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9.

Ichinose A et al. (1990) Amino acid sequence of human protein Z, a vitamin K-dependent plasma glycoprotein.

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10.

Højrup P et al. (1985) Amino acid sequence of bovine protein Z: a vitamin K-dependent serine protease homolog.

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11.

Broze GJ et al. (1984) Human Protein Z.

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12.

Højrup P et al. (1982) Amino-acid sequence of the vitamin-K-dependent part of protein Z.

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13.

Fujimaki K et al. (1998) The gene for human protein Z is localized to chromosome 13 at band q34 and is coded by eight regular exons and one alternative exon.

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14.

Han X et al. (1998) Isolation of a protein Z-dependent plasma protease inhibitor.

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15.

Kemkes-Matthes B et al. (2005) R255h amino acid substitution of protein Z identified in patients with factor V Leiden mutation.

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16.

Orphanet article

Orphanet ID 391022 [^]
17.

NCBI article

NCBI 8858 [^]
18.

OMIM.ORG article

Omim 176895 [^]
19.

Wikipedia Artikel

Wikipedia DE (Protein_Z) [^]
Update: 29. April 2019