Understanding Clinical Signifcance of GPI Anchored Proteins in Mammalian System: Special Emphasis on Genetic Disorders of GPI Anchor Biosynthesis Pathway
Journal Title: International Journal of Medical Research & Health Sciences (IJMRHS) - Year 2017, Vol 6, Issue 8
Abstract
The mode of attaching the membrane protein with GPI anchor is known as GPI anchoring of protein and proteins thus formed are known as GPI anchored protein. GPI anchor is a glycolipid moiety which is synthesized in endoplasmic reticulum of cell with the help of a multistep pathway called GPI anchor biosynthesis pathway. This pathway is regulated by more than 26 enzymes and mutation in genes of this pathway leads to disorders called Inherited Genetic Disorders (IGD) which are inherited as recessive trait. This study describes the clinical signifcance of GPI anchored proteins in mammalian system. Methods: This review is focused on different types of inherited genetic disorders caused by mutations in different genes of GPI anchor biosynthesis pathway and also explains the role of GPI anchored proteins in deadly disease like cancer and neurodegenerative prion disease. Results: Genetic mutations in GPI anchor biosynthesis pathway lead to disorders called Inherited Genetic Disorders (IGD) which are inherited as recessive trait. The major symptoms of these disorders are intellectual disability, coarse facial features and organs abnormality. Different subunits of GPI transamidase complex, one of the enzyme of this pathway are also identifed as oncogenes in different types of cancers. Conclusion: Although this pathway is not essential in mammals but genetic defects result in synthesis of defective GPI anchored proteins which lead to many disorders and syndromes.
Authors and Affiliations
Kalpana Pawar| Uttarakhand Technical University, Suddhowala, Dehradun, India, School of Life Sciences, Jawaharlal Nehru University, New Delhi, India, Corresponding e-mail: kalpana.saroha@gmail.com, Balwinder Singh| Uttarakhand Technical University, Suddhowala, Dehradun, India
Keywords
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