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Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (PIG-A, or phosphatidylinositol glycan, class A) is the catalytic subunit of the phosphatidylinositol N-acetylglucosaminyltransferase enzyme, which in humans is encoded by the PIGAgene.[5][6]
This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from somatic mutations in this gene. Alternate splice variants have been characterized.[6]
Multiple Congenital Anomalies-Hypotonia-Seizures syndrome type 2 (MCAHS2), also known as PIGA-CDG or PIGA deficiency, has been shown to result from germline mutations in the PIGA gene.[7]
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^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Takeda J, Miyata T, Kawagoe K, Iida Y, Endo Y, Fujita T, Takahashi M, Kitani T, Kinoshita T (Jun 1993). "Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria". Cell. 73 (4): 703–11. doi:10.1016/0092-8674(93)90250-T. PMID8500164. S2CID22122559.
Yu J, Nagarajan S, Ueda E, et al. (1994). "Characterization of alternatively spliced PIG-A transcripts in normal and paroxysmal nocturnal hemoglobinuria cells". Braz. J. Med. Biol. Res. 27 (2): 195–201. PMID8081230.
Bessler M, Hillmen P, Longo L, et al. (1994). "Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21". Hum. Mol. Genet. 3 (5): 751–7. doi:10.1093/hmg/3.5.751. PMID8081362.
Savoia A, Ianzano L, Lunardi C, et al. (1996). "Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients". Hum. Genet. 97 (1): 45–8. doi:10.1007/BF00218831. PMID8557259. S2CID24872224.
Nafa K, Bessler M, Castro-Malaspina H, et al. (1999). "The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications". Blood Cells Mol. Dis. 24 (3): 370–84. doi:10.1006/bcmd.1998.0203. PMID10087994.
This page was last edited on 27 October 2023, at 20:03