phosphatidylinositol N-acetylglucosaminyltransferase subunit H isoform - Protein

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Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination. [Clin Dysmorphol. 2022]
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination.
do Rosario MC, Kaur P, Girisha KM, Bielas S, Shukla A. Clin Dysmorphol. 2022 Oct 1; 31(4):196-200. Epub 2022 Apr 19.
An epigenetic GPI anchor defect impairs TLR4 signaling in the B cell transdifferentiation model for primary human monocytes BLaER1. [Sci Rep. 2021]
An epigenetic GPI anchor defect impairs TLR4 signaling in the B cell transdifferentiation model for primary human monocytes BLaER1.
Wegner J, Zillinger T, Schlee-Guimaraes TM, Bartok E, Schlee M. Sci Rep. 2021 Jul 22; 11(1):14983. Epub 2021 Jul 22.
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. [Clin Genet. 2021]
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
Tremblay-Laganière C, Kaiyrzhanov R, Maroofian R, Nguyen TTM, Salayev K, Chilton IT, Chung WK, Madden JA, Phornphutkul C, Agrawal PB, et al. Clin Genet. 2021 Feb; 99(2):313-317. Epub 2020 Nov 27.

RefSeq mRNA
See reference mRNA sequence for the PIGH gene (XM_019009392.4).
RefSeq protein isoforms
See the other reference sequence protein isoform for the PIGH gene (XP_004055373.2).

phosphatidylinositol N-acetylglucosaminyltransferase subunit H isoform X2 [Goril...
phosphatidylinositol N-acetylglucosaminyltransferase subunit H isoform X2 [Gorilla gorilla gorilla]
gi|2694942000|ref|XP_018864937.2|

Protein
RecName: Full=Integral membrane protein 2A; AltName: Full=Protein E25
RecName: Full=Integral membrane protein 2A; AltName: Full=Protein E25
gi|6016399|sp|O43736.2|ITM2A_HUMAN

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