phosphatidylinositol glycan anchor biosynthesis class T
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The PIGT gene provides instructions for making a protein called GPI transamidase component PIG-T (shortened to PIG-T protein). This protein is important for the attachment of certain proteins to the cell surface. Specifically, the PIG-T protein attaches (binds) a molecule called a glycosylphosphatidylinositol (GPI) anchor to various proteins inside the cell. After the GPI anchor and protein are bound, the anchor is attached to the outer surface of the cell membrane. Anchored proteins have a variety of roles, including sticking cells to one another, relaying signals into cells, and protecting cells from destruction.
Normal function
The PIGT gene provides instructions for making a protein called GPI transamidase component PIG-T (shortened to PIG-T protein). This protein is important for the attachment of certain proteins to the cell surface. Specifically, the PIG-T protein attaches (binds) a molecule called a glycosylphosphatidylinositol (GPI) anchor to various proteins inside the cell. After the GPI anchor and protein are bound, the anchor is attached to the outer surface of the cell membrane. 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
Altri nomi
CGI-06
MCAHS3
NDAP
neuronal development-associated protein
phosphatidylinositol glycan, class T
PNH2
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Ulteriori letture e riferimenti
- phosphatidylinositol glycan anchor biosynthesis class T; MedlinePlus, National Library of Medicine.
- Brodsky RA. Paroxysmal nocturnal hemoglobinuria without GPI-anchor deficiency. J Clin Invest. 2019 Dec 2;129(12):5074-5076. doi: 10.1172/JCI131647.
- Hochsmann B, Murakami Y, Osato M, Knaus A, Kawamoto M, Inoue N, Hirata T, Murata S, Anliker M, Eggermann T, Jager M, Floettmann R, Hollein A, Murase S, Ueda Y, Nishimura JI, Kanakura Y, Kohara N, Schrezenmeier H, Krawitz PM, Kinoshita T. Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation. J Clin Invest. 2019 Dec 2;129(12):5123-5136. doi: 10.1172/JCI123501.
- Krawitz PM, Hochsmann B, Murakami Y, Teubner B, Kruger U, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, Robinson PN, Mundlos S, Kinoshita T, Schrezenmeier H. A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood. 2013 Aug 15;122(7):1312-5. doi: 10.1182/blood-2013-01-481499. Epub 2013 Jun 3.
- Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stodberg T, Makitie O, Anderlid BM, Bryceson YT, Nordenskjold M, Nordgren A. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet. 2013 Aug;50(8):521-8. doi: 10.1136/jmedgenet-2013-101654. Epub 2013 May 1.
- Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. Neurogenetics. 2014 Aug;15(3):193-200. doi: 10.1007/s10048-014-0408-y. Epub 2014 Jun 8.
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