RecName: Full=GPI transamidase component PIG-S; AltName: Full=Phosphat - Protein

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Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. [Epilepsia. 2021]
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
Efthymiou S, Dutra-Clarke M, Maroofian R, Kaiyrzhanov R, Scala M, Reza Alvi J, Sultan T, Christoforou M, Tuyet Mai Nguyen T, Mankad K, et al. Epilepsia. 2021 Feb; 62(2):e35-e41. Epub 2021 Jan 7.
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. [Am J Hum Genet. 2018]
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, et al. Am J Hum Genet. 2018 Oct 4; 103(4):602-611. Epub 2018 Sep 27.
Endoplasmic reticulum localization of Gaa1 and PIG-T, subunits of the glycosylphosphatidylinositol transamidase complex. [J Biol Chem. 2005]
Endoplasmic reticulum localization of Gaa1 and PIG-T, subunits of the glycosylphosphatidylinositol transamidase complex.
Vainauskas S, Menon AK. J Biol Chem. 2005 Apr 22; 280(16):16402-9. Epub 2005 Feb 15.

RefSeq protein
See the reference protein sequence for GPI transamidase component PIG-S (NP_149975.1).

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Q96S52 [Domain Mapping of Disease Mut...]
Q96S52
Domain Mapping of Disease Mutations
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RecName: Full=GPI transamidase component PIG-S; AltName: Full=Phosphatidylinosit...
RecName: Full=GPI transamidase component PIG-S; AltName: Full=Phosphatidylinositol-glycan biosynthesis class S protein
gi|21759353|sp|Q96S52.3|PIGS_HUMAN

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