Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Protein Z-dependent protease inhibitor

The SERPINA10 gene encodes a proteinase inhibitor which with its cofactor protein Z inhibits activated coagulations factors Xa and XIa. Inactivating mutations may promote thrombophilia.

Genetests:

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

Related Diseases:

Protein Z deficiency
PROZ
SERPINA10

References:

1.

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

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2.

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

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3.

New L et. al. (1996) cDNA cloning of rasp-1, a novel gene encoding a plasma protein associated with liver regeneration.

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4.

Han X et. al. (1999) The protein Z-dependent protease inhibitor is a serpin.

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5.

Van de Water N et. al. (2004) Mutations within the protein Z-dependent protease inhibitor gene are associated with venous thromboembolic disease: a new form of thrombophilia.

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Update: Sept. 26, 2018