MCID: PRT130
MIFTS: 31

Protein Z Deficiency

Categories: Genetic diseases

Aliases & Classifications for Protein Z Deficiency

MalaCards integrated aliases for Protein Z Deficiency:

Name: Protein Z Deficiency 58 30 6 41 74
Protein Z 13

Classifications:



External Ids:

OMIM 58 614024
UMLS 74 C3151465

Summaries for Protein Z Deficiency

OMIM : 58 Protein Z serves as a cofactor for the downregulation of coagulation by forming a complex with the protein Z-dependent protease inhibitor (ZPI; 605271). Evidence also suggests that protein Z may promote the assembly of thrombin with phospholipid surfaces, thus enhancing coagulation. There is a wide variation of protein Z levels in human plasma, and studies have reported conflicting results of the clinical consequences of protein Z deficiency in humans. Most studies have reported an association between decreased protein Z levels and thrombosis, including stroke, venous thrombosis, and obstetric complications, although early reports suggested an association between protein Z deficiency and bleeding tendency (Kemkes-Matthes and Matthes, 1995). Overall, a role for protein Z in the pathogenesis of hemostatic disorders in humans is controversial and remains unclear (review by Broze, 2001 and Vasse, 2008). Protein Z deficiency has been shown to exacerbate the thrombotic phenotype in patients with thrombophilia due to factor V Leiden (see 188055). (614024)

MalaCards based summary : Protein Z Deficiency, also known as protein z, is related to thrombosis and thrombophilia due to thrombin defect. An important gene associated with Protein Z Deficiency is PROZ (Protein Z, Vitamin K Dependent Plasma Glycoprotein), and among its related pathways/superpathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Warfarin Pathway, Pharmacodynamics. Affiliated tissues include heart, kidney and endothelial, and related phenotype is cardiovascular system.

Related Diseases for Protein Z Deficiency

Diseases related to Protein Z Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 thrombosis 29.8 F10 SERPINA10
2 thrombophilia due to thrombin defect 10.2
3 thrombophilia 10.0
4 ischemia 10.0
5 myocardial infarction 9.9
6 peripheral vascular disease 9.9
7 leukemia 9.9
8 breast cancer 9.8
9 small cell cancer of the lung 9.8
10 lung cancer 9.8
11 pancreatic cancer 9.8
12 stroke, ischemic 9.8
13 gastric cancer 9.8
14 acute leukemia 9.8
15 lymphoma 9.8
16 essential thrombocythemia 9.8
17 shwartzman phenomenon 9.8
18 kidney disease 9.8
19 placenta disease 9.8
20 sickle cell disease 9.8
21 moyamoya disease 1 9.8
22 spinal cord injury 9.8
23 arteries, anomalies of 9.7
24 factor viii deficiency 9.7
25 systemic lupus erythematosus 9.7
26 ovarian cancer 9.7
27 thrombophilia due to activated protein c resistance 9.7
28 lymphoma, hodgkin, classic 9.7
29 myeloma, multiple 9.7
30 nonarteritic anterior ischemic optic neuropathy 9.7
31 polycythemia vera 9.7
32 hemophilia a 9.7
33 budd-chiari syndrome 9.7
34 coronary heart disease 1 9.7
35 lung cancer susceptibility 3 9.7
36 pregnancy loss, recurrent 1 9.7
37 acute myocardial infarction 9.7
38 cerebral hemorrhage 9.7
39 chronic kidney failure 9.7
40 coronary artery anomaly 9.7
41 ischemic optic neuropathy 9.7
42 liver disease 9.7
43 thalassemia 9.7
44 arteritic anterior ischemic optic neuropathy 9.7
45 colitis 9.7
46 ischemic colitis 9.7
47 atrial fibrillation 9.7
48 pre-eclampsia 9.7
49 disseminated intravascular coagulation 9.7
50 heart disease 9.7

Graphical network of the top 20 diseases related to Protein Z Deficiency:



Diseases related to Protein Z Deficiency

Symptoms & Phenotypes for Protein Z Deficiency

Clinical features from OMIM:

614024

MGI Mouse Phenotypes related to Protein Z Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 8.8 F10 PROZ SERPINA10

Drugs & Therapeutics for Protein Z Deficiency

Search Clinical Trials , NIH Clinical Center for Protein Z Deficiency

Genetic Tests for Protein Z Deficiency

Genetic tests related to Protein Z Deficiency:

# Genetic test Affiliating Genes
1 Protein Z Deficiency 30 PROZ

Anatomical Context for Protein Z Deficiency

MalaCards organs/tissues related to Protein Z Deficiency:

42
Heart, Kidney, Endothelial, Colon, Spinal Cord, Placenta

Publications for Protein Z Deficiency

Articles related to Protein Z Deficiency:

(show top 50) (show all 243)
# Title Authors Year
1
Protein Z-dependent protease inhibitor (ZPI) is a physiologically significant inhibitor of prothrombinase function. ( 30918026 )
2019
2
Low Protein Z Level: A Thrombophilic Risk Biomarker for Acute Coronary Syndrome. ( 30988573 )
2019
3
Low Protein Z Level: A Thrombophilic Risk Biomarker for Acute Coronary Syndrome. ( 30988592 )
2019
4
The relation between protein Z polymorphism and the risk of thrombosis in Egyptian patients with antiphospholipid syndrome. ( 29684342 )
2018
5
Suppressing protein Z-dependent inhibition of factor Xa improves coagulation in hemophilia A. ( 30451376 )
2018
6
Protein Z and Endothelin-1 genetic polymorphisms in pediatric Egyptian sickle cell disease patients. ( 28548215 )
2018
7
Assessment of the Procoagulant Activity of Microparticles and the Protein Z System in Patients Undergoing Off-Pump Coronary Artery Bypass Surgery. ( 28464697 )
2018
8
Low plasma protein Z levels are associated with an increased risk for perioperative bleedings. ( 29360177 )
2018
9
High frequency of anti-protein Z antibodies in patients with anticardiolipin antibodies. ( 30115377 )
2018
10
Serum amyloid A, protein Z, and C4b-binding protein β chain as new potential biomarkers for pulmonary tuberculosis. ( 28278182 )
2017
11
The Role of Protein Z and Protein Z-Dependent Protease Inhibitor Polymorphisms in the Development of Prosthetic Heart Valve Thrombosis. ( 29302946 )
2017
12
Protein Z (PZ) and plasminogen activator inhibitor-1 (PAI-1) plasma levels in patients with previously untreated Hodgkin lymphoma (HL). ( 28952223 )
2017
13
Circulating protein Z concentration, PROZ variants, and unexplained cerebral infarction in young and middle-aged adults. ( 27683756 )
2017
14
Protein Z and atherosclerotic disease: a less close relationship than though. ( 27844302 )
2017
15
Lipid oxidation inactivates the anticoagulant function of protein Z-dependent protease inhibitor (ZPI). ( 28717005 )
2017
16
Characterization of Protein Z-Dependent Protease Inhibitor/Antithrombin Chimeras Provides Insight into the Serpin Specificity of Coagulation Proteases. ( 28782047 )
2017
17
An RNAi Screen in a Novel Model of Oriented Divisions Identifies the Actin-Capping Protein Z β as an Essential Regulator of Spindle Orientation. ( 28803871 )
2017
18
Low Protein Z levels in patients with plasma cell neoplasms are inversely correlated with IL-6 levels. ( 29031125 )
2017
19
Low protein Z plasma level is a risk factor for acute myocardial infarction in coronary atherosclerosis disease patients. ( 27770663 )
2016
20
Association of protein Z and factor VII gene polymorphisms with risk of cerebral hemorrhage: a case-control and a family-based association study in a Chinese Han population. ( 27350683 )
2016
21
Protein Z efficiently depletes thrombin generation in disseminated intravascular coagulation with poor prognosis. ( 26203764 )
2016
22
Plasma Concentrations of Protein Z and Protein Z-Dependent Protease Inhibitor in Patients With Essential Thrombocythemia. ( 25783867 )
2016
23
Postpartum Ischemic Stroke in Moyamoya Disease Associated with Protein Z Deficiency-A Case Report. ( 27425767 )
2016
24
Cloning and characterization of filamentous temperature-sensitive protein Z from Xanthomonas oryzae pv. Oryzae. ( 27026842 )
2016
25
Quantification of protein Z expression in lung adenocarcinoma tissues and cells. ( 27462494 )
2016
26
Contribution of protein Z gene single-nucleotide polymorphism to systemic lupus erythematosus in Egyptian patients. ( 26761586 )
2016
27
Functionalized silk assembled from a recombinant spider silk fusion protein (Z-4RepCT) produced in the methylotrophic yeast Pichia pastoris. ( 26814048 )
2016
28
Protein Z: A putative novel biomarker for early detection of ovarian cancer. ( 26815306 )
2016
29
Crystal Structure of the Oligomeric Form of Lassa Virus Matrix Protein Z. ( 26912609 )
2016
30
Single Nucleotide Variant rs2232710 in the Protein Z-Dependent Protease Inhibitor (ZPI, SERPINA10) Gene Is Not Associated with Deep Vein Thrombosis. ( 26982741 )
2016
31
The role of protein Z and protein Z-dependent protease inhibitor polymorphisms in the development of prosthetic heart valve thrombosis. ( 27240610 )
2016
32
A novel phosphoserine motif in the LCMV matrix protein Z regulates the release of infectious virus and defective interfering particles. ( 27421645 )
2016
33
Phosphatidylserine and Phosphatidylethanolamine Bind to Protein Z Cooperatively and with Equal Affinity. ( 27584039 )
2016
34
Protein Z G79A polymorphism and puerperal cerebral venous thrombosis. ( 24907135 )
2015
35
Prominent protein Z-induced thrombin inhibition in cirrhosis: a new functional assay for hypercoagulability assessment. ( 25303721 )
2015
36
Thermodynamic and kinetic characterization of the protein Z-dependent protease inhibitor (ZPI)-protein Z interaction reveals an unexpected role for ZPI Lys-239. ( 25713144 )
2015
37
Circular dichroism and infrared spectroscopic characterization of secondary structure components of protein Z during mashing and boiling processes. ( 26041183 )
2015
38
A theoretical study on the molecular determinants of the affibody protein Z(Aβ3) bound to an amyloid β peptide. ( 26060853 )
2015
39
The plasma levels of protein Z-dependent protease inhibitor increase after gynecological surgery independently of estrogen. ( 26432651 )
2015
40
Protein Z-deficiency is associated with enhanced neointima formation and inflammatory response after vascular injury in mice. ( 25337252 )
2014
41
Optimization of photoactive protein Z for fast and efficient site-specific conjugation of native IgG. ( 25121619 )
2014
42
Protein z exerts pro-angiogenic effects and upregulates CXCR4. ( 25474349 )
2014
43
Is there a role for MDR1, EPHX1 and protein Z gene variants in modulation of warfarin dosage? a study on a cohort of the Egyptian population. ( 24092646 )
2014
44
Protein Z/protein Z-dependent protease inhibitor system in loco in human gastric cancer. ( 24158387 )
2014
45
Unbalance between plasma levels of Protein Z and protein Z-dependent inhibitor in patients with colorectal and pancreatic cancer: a pilot study. ( 24315319 )
2014
46
Characterization of the protein Z-dependent protease inhibitor interactive-sites of protein Z. ( 24960590 )
2014
47
Contribution of protein Z and protein Z-dependent protease inhibitor in generalized Shwartzman reaction. ( 23963134 )
2013
48
Protein Z, protein Z-dependent protease inhibitor (serpinA10), and the acute-phase response. ( 23205927 )
2013
49
Filamentation temperature-sensitive protein Z (FtsZ) of Wolbachia, endosymbiont of Wuchereria bancrofti: a potential target for anti-filarial chemotherapy. ( 23262214 )
2013
50
Plasma concentration of protein Z and protein Z-dependent protease inhibitor in patients with haemophilia A. ( 23269381 )
2013

Variations for Protein Z Deficiency

ClinVar genetic disease variations for Protein Z Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PROZ PROZ, GLU30GLN single nucleotide variant Affects

Expression for Protein Z Deficiency

Search GEO for disease gene expression data for Protein Z Deficiency.

Pathways for Protein Z Deficiency

GO Terms for Protein Z Deficiency

Cellular components related to Protein Z Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 F10 PROZ SERPINA10
2 extracellular space GO:0005615 9.33 F10 PROZ SERPINA10
3 Golgi lumen GO:0005796 8.96 F10 PROZ
4 endoplasmic reticulum lumen GO:0005788 8.8 F10 PROZ SERPINA10

Biological processes related to Protein Z Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.16 F10 PROZ
2 blood coagulation GO:0007596 9.13 F10 PROZ SERPINA10
3 hemostasis GO:0007599 8.8 F10 PROZ SERPINA10

Molecular functions related to Protein Z Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.96 F10 PROZ
2 serine-type endopeptidase activity GO:0004252 8.62 F10 PROZ

Sources for Protein Z Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....