Abstract
Members of the substilisin/kexin like proprotein convertase (PCSK) protease family cleave and convert immature pro-proteins into their biologically active forms. By cleaving for example prohormones, cytokines and cell membrane proteins, PCSKs participate in maintaining the homeostasis in a healthy human body. Conversely, erratic enzymatic function is thought to contribute to the pathogenesis of a wide variety of diseases, including obesity and hypercholestrolemia. The first characterized seven PCSK enzymes (PCSK1-2, FURIN, PCSK4-7) process their substrates at a motif made up of paired basic amino acid residues. This feature results in a variable degree of biochemical redundancy in vitro, and consequently, shared substrate molecules between the different PCSK enzymes. This redundancy has confounded our understanding of the specific biological functions of PCSKs. The physiological roles of these enzymes have been best illustrated by the phenotypes of genetically engineered mice and patients that carry mutations in the PCSK genes. Recent developments in genome-wide methodology have generated a large amount of novel information on the genetics of the first seven proprotein convertases. In this review we summarize the reported genetic alterations and their associated phenotypes.
Keywords: Proprotein convertase, Genetics, FURIN, Association.
Current Genomics
Title:Genetics of the First Seven Proprotein Convertase Enzymes in Health and Disease
Volume: 14 Issue: 7
Author(s): Hannu Turpeinen, Zsuzsanna Ortutay and Marko Pesu
Affiliation:
Keywords: Proprotein convertase, Genetics, FURIN, Association.
Abstract: Members of the substilisin/kexin like proprotein convertase (PCSK) protease family cleave and convert immature pro-proteins into their biologically active forms. By cleaving for example prohormones, cytokines and cell membrane proteins, PCSKs participate in maintaining the homeostasis in a healthy human body. Conversely, erratic enzymatic function is thought to contribute to the pathogenesis of a wide variety of diseases, including obesity and hypercholestrolemia. The first characterized seven PCSK enzymes (PCSK1-2, FURIN, PCSK4-7) process their substrates at a motif made up of paired basic amino acid residues. This feature results in a variable degree of biochemical redundancy in vitro, and consequently, shared substrate molecules between the different PCSK enzymes. This redundancy has confounded our understanding of the specific biological functions of PCSKs. The physiological roles of these enzymes have been best illustrated by the phenotypes of genetically engineered mice and patients that carry mutations in the PCSK genes. Recent developments in genome-wide methodology have generated a large amount of novel information on the genetics of the first seven proprotein convertases. In this review we summarize the reported genetic alterations and their associated phenotypes.
Export Options
About this article
Cite this article as:
Turpeinen Hannu, Ortutay Zsuzsanna and Pesu Marko, Genetics of the First Seven Proprotein Convertase Enzymes in Health and Disease, Current Genomics 2013; 14 (7) . https://dx.doi.org/10.2174/1389202911314050010
DOI https://dx.doi.org/10.2174/1389202911314050010 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced AI Techniques in Big Genomic Data Analysis
The thematic issue on "Advanced AI Techniques in Big Genomic Data Analysis" aims to explore the cutting-edge methodologies and applications of artificial intelligence (AI) in the realm of genomic research, where vast amounts of data pose both challenges and opportunities. This issue will cover a broad spectrum of AI-driven strategies, ...read more
Advanced Computational Algorithms and Artificial Intelligence in Clinical Pharmacogenomics
In the era of personalized medicine, understanding the relationship between genetics and drug response is crucial. This issue delves into innovative methodologies, leveraging deep computational analysis and artificial intelligence, to enhance the field of Clinical Pharmacogenomics. The interdisciplinary approach harnesses the power of advanced high-throughput genotyping technologies, sophisticated computational analysis, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Big Data in Cancer Research
Cancer is a significant threat to human life and health, remaining a highly aggressive killer. It is a leading cause of death worldwide and represents a crucial medical issue for humanity. However, in the past decade, the effectiveness of new synthetic anticancer agents has not matched the current clinical speculation. ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Encapsulation of Imatinib in Targeted KIT-5 Nanoparticles for Reducing its Cardiotoxicity and Hepatotoxicity
Anti-Cancer Agents in Medicinal Chemistry Polo-Like Kinase 1 as a Potential Therapeutic Target for Osteosarcoma
Current Pharmaceutical Design Merkel Cell Carcinoma: Epidemiology, Clinical Presentations, Histology, Polyomavirus Involvement, and Management
Current Cancer Therapy Reviews Biochemical Markers for Brain Injury Monitoring in Children with or without Congenital Heart Diseases
CNS & Neurological Disorders - Drug Targets Clinical Implications of Patient-Provider Agreements in Opioid Prescribing
Current Drug Safety Biomarkers in Asthma - Interpretation, and Utility in Current Asthma Management
Current Respiratory Medicine Reviews New Clinical Perspectives of Hypolipidemic Drug Therapy in Severe Hypercholesterolemia
Current Medicinal Chemistry Oncogenic Fusion Tyrosine Kinases as Molecular Targets for Anti-Cancer Therapy
Anti-Cancer Agents in Medicinal Chemistry Nanocarriers as Prospective Approach in Effective Management of Acne Vulgaris
Micro and Nanosystems Management of Certain Respiratory Disorders through Ayurveda: A Systematic Review of Clinical Studies Published in Ayurveda Journal
Current Traditional Medicine Current Prospective of Aldose Reductase Inhibition in the Therapy of Allergic Airway Inflammation in Asthma
Current Molecular Medicine Rheumatic Manifestations in Malignancy
Current Rheumatology Reviews Non-Celiac Gluten Sensitivity Triggers Gut Dysbiosis, Neuroinflammation, Gut-Brain Axis Dysfunction, and Vulnerability for Dementia
CNS & Neurological Disorders - Drug Targets Strain Imaging Echocardiography: What Imaging Cardiologists Should Know
Current Cardiology Reviews Cause and Consequences of Genetic and Epigenetic Alterations in Human Cancer
Current Genomics The Use of Proteomics to Study Infectious Diseases
Infectious Disorders - Drug Targets Targeting IGF-I, IGFBPs and IGF-I Receptor System in Cancer: The Current and Future in Breast Cancer Therapy
Recent Patents on Anti-Cancer Drug Discovery Natural Products as Anticancer Agents
Current Drug Targets Personalized Treatment of Obsessive-Compulsive Disorder: Radiology, EEG, Pharmacogenetics and Biochemistry
Current Pharmacogenomics and Personalized Medicine Brain Proton Magnetic Resonance Spectroscopy: A Review of Main Metabolites and its Clinical Applications in Gliomas
Current Molecular Imaging (Discontinued)