Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Protein Z deficiency

Protein Z deficiency is associated with thrombophilia. Various mutations of protein sequency and regulatory intron variation may result in reduced protein Z expression. The effect is mostly additive.

Systematic

Thromboembolic diseases
Autosomal dominant protein C deficiency
Autosomal dominant protein S deficiency
Autosomal recessive protein C deficiency
Autosomal recessive protein S deficiency
F2
F5
Factor XII deficiency
HABP2
Hypoplasminogenemia
MTHFR
PAI transcription modulator
Protein Z deficiency
PROZ
SERPINA10
SERPINC1
THBD
Thrombophilia due to heparin cofactor 2 deficiency
VKORC1

References:

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.

Kemkes-Matthes B et. al. (1995) Protein Z deficiency: a new cause of bleeding tendency.

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8.

Gamba G et. al. (1998) Bleeding tendency of unknown origin and protein Z levels.

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9.

Ravi S et. al. (1998) Protein Z in healthy human individuals and in patients with a bleeding tendency.

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10.

Gris JC et. al. (2002) High frequency of protein Z deficiency in patients with unexplained early fetal loss.

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11.

None (2008) Protein Z, a protein seeking a pathology.

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12.

Sofi F et. al. (2010) A meta-analysis of potential risks of low levels of protein Z for diseases related to vascular thrombosis.

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Update: Sept. 26, 2018