phosphatidylinositol glycan anchor biosynthesis class A
Última actualización 24 Feb 2022
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The PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A (shortened to PIG-A). The PIG-A protein takes part in a series of steps that produce a molecule called glycophosphatidylinositol (GPI) anchor. Specifically, the PIG-A protein is one piece of a group of proteins (a complex) that performs the first step of the series, which produces an intermediate molecule called N-acetylglucosaminyl phosphatidylinositol, or GlcNAc-PI.
Normal function
The PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A (shortened to PIG-A). The PIG-A protein takes part in a series of steps that produce a molecule called glycophosphatidylinositol (GPI) anchor. Specifically, the PIG-A protein is one piece of a group of proteins (a complex) that performs the first step of the series, which produces an intermediate molecule called N-acetylglucosaminyl phosphatidylinositol, or GlcNAc-PI.
The GPI anchor, the ultimate product of the series of steps, attaches many different proteins to the cell membrane. These proteins are known as GPI-anchored proteins. Anchored proteins have a variety of roles, including sticking cells to one another, relaying signals into cells, and protecting cells from destruction.
Conditions referring to this gene or chromosome
Otros nombres
GLCNAC-PI synthesis protein
GPI anchor biosynthesis
GPI3
phosphatidylinositol glycan anchor biosynthesis, class A
phosphatidylinositol glycan anchor biosynthesis, class A (paroxysmal nocturnal hemoglobinuria)
phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)
phosphatidylinositol N-acetylglucosaminyltransferase subunit A
phosphatidylinositol-glycan biosynthesis, class A protein
PIG-A
PIGA_HUMAN
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Lecturas adicionales y referencias
- phosphatidylinositol glycan anchor biosynthesis class A; MedlinePlus, National Library of Medicine.
- Brodsky RA, Hu R. PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis. Leuk Lymphoma. 2006 Jul;47(7):1215-21. doi: 10.1080/10428190600555520.
- Gurnari C, Pagliuca S, Patel BJ, Awada H, Kongkiatkamon S, Terkawi L, Zawit M, Corey S, Lichtin AE, Carraway HE, Wahida A, Visconte V, Maciejewski JP. Implication of PIGA genotype on erythrocytes phenotype in Paroxysmal Nocturnal Hemoglobinuria. Leukemia. 2021 Aug;35(8):2431-2434. doi: 10.1038/s41375-020-01113-0. Epub 2021 Jan 22. No abstract available.
- Inoue N, Murakami Y, Kinoshita T. Molecular genetics of paroxysmal nocturnal hemoglobinuria. Int J Hematol. 2003 Feb;77(2):107-12. doi: 10.1007/BF02983208.
- Mortazavi Y, Merk B, McIntosh J, Marsh JC, Schrezenmeier H, Rutherford TR; BIOMED II Pathophysiology and Treatment of Aplastic Anaemia Study Group. The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria (AA/PNH): a high incidence of multiple mutations and evidence of a mutational hot spot. Blood. 2003 Apr 1;101(7):2833-41. doi: 10.1182/blood-2002-07-2095. Epub 2002 Nov 7.
- Rosti V. The molecular basis of paroxysmal nocturnal hemoglobinuria. Haematologica. 2000 Jan;85(1):82-7.
- Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van Karnebeek CD. The genotypic and phenotypic spectrum of PIGA deficiency. Orphanet J Rare Dis. 2015 Feb 27;10:23. doi: 10.1186/s13023-015-0243-8.
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