Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Protein Z-Mangel
PROZ
SERPINA10

Referenzen:

1.

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

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2.

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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3.

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

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4.

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

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5.

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

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6.

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

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7.

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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8.

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

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9.

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

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10.

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

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11.

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

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12.

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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13.

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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14.

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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15.

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

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