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Vitamin K-dependent protein Z

The PROZ gene encodes protein Z, a regulator of the coagulation system which together with cofactor encoded by the SERPINA10 gene inhibits activated coagulations factors Xa and XIa. Inactivating mutations may promote thrombophilia.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Protein Z deficiency
PROZ
SERPINA10

References:

1.

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

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2.

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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3.

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

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4.

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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5.

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

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6.

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

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7.

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

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8.

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

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9.

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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10.

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

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11.

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

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12.

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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13.

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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14.

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

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15.

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

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16.

Orphanet article

Orphanet ID 391022 external link
17.

NCBI article

NCBI 8858 external link
18.

OMIM.ORG article

Omim 176895 external link
19.

Wikipedia article

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