MCID: PRT130
MIFTS: 30

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, liver and lung, 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 60)
# 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 myocardial infarction 9.9
5 leukemia 9.9
6 breast cancer 9.8
7 small cell cancer of the lung 9.8
8 lung cancer 9.8
9 pancreatic cancer 9.8
10 gastric cancer 9.8
11 acute leukemia 9.8
12 lymphoma 9.8
13 essential thrombocythemia 9.8
14 ischemia 9.8
15 shwartzman phenomenon 9.8
16 kidney disease 9.8
17 sickle cell disease 9.8
18 moyamoya disease 1 9.8
19 spinal cord injury 9.8
20 arteries, anomalies of 9.7
21 factor viii deficiency 9.7
22 systemic lupus erythematosus 9.7
23 ovarian cancer 9.7
24 lymphoma, hodgkin, classic 9.7
25 myeloma, multiple 9.7
26 nonarteritic anterior ischemic optic neuropathy 9.7
27 polycythemia vera 9.7
28 hemophilia a 9.7
29 stroke, ischemic 9.7
30 coronary heart disease 1 9.7
31 lung cancer susceptibility 3 9.7
32 acute myocardial infarction 9.7
33 cerebral hemorrhage 9.7
34 chronic kidney failure 9.7
35 coronary artery anomaly 9.7
36 ischemic optic neuropathy 9.7
37 liver disease 9.7
38 thalassemia 9.7
39 arteritic anterior ischemic optic neuropathy 9.7
40 colitis 9.7
41 ischemic colitis 9.7
42 atrial fibrillation 9.7
43 pre-eclampsia 9.7
44 disseminated intravascular coagulation 9.7
45 heart disease 9.7
46 pyelonephritis 9.7
47 nephrotic syndrome 9.7
48 lymphocytic choriomeningitis 9.7
49 hellp syndrome 9.7
50 eclampsia 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, Liver, Lung, Endothelial, Spinal Cord

Publications for Protein Z Deficiency

Articles related to Protein Z Deficiency:

(show top 50) (show all 117)
# Title Authors Year
1
The relation between protein Z polymorphism and the risk of thrombosis in Egyptian patients with antiphospholipid syndrome. ( 29684342 )
2018
2
Suppressing Protein Z-Dependent Inhibition of Factor Xa Improves Coagulation in Hemophilia A. ( 30451376 )
2018
3
Protein Z and Endothelin-1 genetic polymorphisms in pediatric Egyptian sickle cell disease patients. ( 28548215 )
2018
4
Assessment of the Procoagulant Activity of Microparticles and the Protein Z System in Patients Undergoing Off-Pump Coronary Artery Bypass Surgery. ( 28464697 )
2018
5
Low plasma protein Z levels are associated with an increased risk for perioperative bleedings. ( 29360177 )
2018
6
High frequency of anti-protein Z antibodies in patients with anticardiolipin antibodies. ( 30115377 )
2018
7
The Role of Protein Z and Protein Z-Dependent Protease Inhibitor Polymorphisms in the Development of Prosthetic Heart Valve Thrombosis. ( 29302946 )
2017
8
Protein Z and atherosclerotic disease: a less close relationship than though. ( 27844302 )
2017
9
Characterization of Protein Z-Dependent Protease Inhibitor/Antithrombin Chimeras Provides Insight into the Serpin Specificity of Coagulation Proteases. ( 28782047 )
2017
10
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
11
Low Protein Z levels in patients with plasma cell neoplasms are inversely correlated with IL-6 levels. ( 29031125 )
2017
12
Postpartum Ischemic Stroke in Moyamoya Disease Associated with Protein Z Deficiency-A Case Report. ( 27425767 )
2016
13
Cloning and characterization of filamentous temperature-sensitive protein Z from Xanthomonas oryzae pv. Oryzae. ( 27026842 )
2016
14
Quantification of protein Z expression in lung adenocarcinoma tissues and cells. ( 27462494 )
2016
15
Functionalized silk assembled from a recombinant spider silk fusion protein (Z-4RepCT) produced in the methylotrophic yeast Pichia pastoris. ( 26814048 )
2016
16
Crystal Structure of the Oligomeric Form of Lassa Virus Matrix Protein Z. ( 26912609 )
2016
17
The role of protein Z and protein Z-dependent protease inhibitor polymorphisms in the development of prosthetic heart valve thrombosis. ( 27240610 )
2016
18
A novel phosphoserine motif in the LCMV matrix protein Z regulates the release of infectious virus and defective interfering particles. ( 27421645 )
2016
19
Phosphatidylserine and Phosphatidylethanolamine Bind to Protein Z Cooperatively and with Equal Affinity. ( 27584039 )
2016
20
Prominent protein Z-induced thrombin inhibition in cirrhosis: a new functional assay for hypercoagulability assessment. ( 25303721 )
2015
21
Circular dichroism and infrared spectroscopic characterization of secondary structure components of protein Z during mashing and boiling processes. ( 26041183 )
2015
22
A theoretical study on the molecular determinants of the affibody protein Z(Aβ3) bound to an amyloid β peptide. ( 26060853 )
2015
23
The plasma levels of protein Z-dependent protease inhibitor increase after gynecological surgery independently of estrogen. ( 26432651 )
2015
24
Protein Z-deficiency is associated with enhanced neointima formation and inflammatory response after vascular injury in mice. ( 25337252 )
2014
25
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
26
Optimization of photoactive protein Z for fast and efficient site-specific conjugation of native IgG. ( 25121619 )
2014
27
Protein z exerts pro-angiogenic effects and upregulates CXCR4. ( 25474349 )
2014
28
Contribution of protein Z and protein Z-dependent protease inhibitor in generalized Shwartzman reaction. ( 23963134 )
2013
29
Protein Z, protein Z-dependent protease inhibitor (serpinA10), and the acute-phase response. ( 23205927 )
2013
30
Filamentation temperature-sensitive protein Z (FtsZ) of Wolbachia, endosymbiont of Wuchereria bancrofti: a potential target for anti-filarial chemotherapy. ( 23262214 )
2013
31
The Drosophila Z-disc protein Z(210) is an adult muscle isoform of Zasp52, which is required for normal myofibril organization in indirect flight muscles. ( 23271733 )
2013
32
The microtubule motor protein KIF13A is involved in intracellular trafficking of the Lassa virus matrix protein Z. ( 23279019 )
2013
33
The evaluation of protein Z levels of children with acute lymphoblastic leukaemia during induction therapy. ( 23337707 )
2013
34
Contributions of procoagulants and anticoagulants to the international normalized ratio and thrombin generation assay in patients treated with warfarin: potential role of protein Z as a powerful determinant of coagulation assays. ( 23769659 )
2013
35
[Protein Z deficiency in unexplained affinity to thromboses, bleedings or abortions]. ( 22960740 )
2012
36
Mechanism of protein-z-mediated inhibition of coagulation factor xa by z-protein-dependent inhibitor: a molecular dynamic approach. ( 22536522 )
2012
37
The role of Ca(2+) ions in the complex assembling of protein Z and Z-dependent protease inhibitor: A structure and dynamics investigation. ( 22715309 )
2012
38
Multifunctional nature of the arenavirus RING finger protein Z. ( 23202512 )
2012
39
The risk of occurrence of venous thrombosis: focus on protein Z. ( 21885093 )
2011
40
High Frequency of anti-protein Z IgM and IgG autoantibodies in women with idiopathic recurrent spontaneous miscarriage. ( 21087334 )
2011
41
Protein Z concentration in multiple myeloma patients. ( 21868070 )
2011
42
The protein Z/protein Z-dependent protease inhibitor complex. ( 29589357 )
2011
43
Efficient budding of the tacaribe virus matrix protein z requires the nucleoprotein. ( 20106925 )
2010
44
Participation of protein Z-dependent protease inhibitor and protein Z system in the pathomechanism of thrombotic complications. ( 22479141 )
2010
45
Maternal anti-protein Z antibodies in pregnancies complicated by pre-eclampsia, SGA and fetal death. ( 19591071 )
2009
46
Protein Z levels and recurrent pregnancy loss. ( 19268937 )
2009
47
Protein Z-dependent protease inhibitor deficiency produces a more severe murine phenotype than protein Z deficiency. ( 18344422 )
2008
48
Protein Z levels and anti-protein Z antibodies in patients with arterial and venous thrombosis. ( 17869328 )
2008
49
Functional analysis of protein Z (Arg255His) and protein Z-dependent protease inhibitor (Lys25Arg and Ser40Gly) polymorphisms. ( 18699853 )
2008
50
Novel prediction method of beer foam stability using protein Z, barley dimeric alpha-amylase inhibitor-1 (BDAI-1) and yeast thioredoxin. ( 18710245 )
2008

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
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