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PIGH encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Additionally we are shipping PIGH Antibodies (49) and many more products for this protein.
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Truncation of PIGH protein was consistent with the utilization of an in-frame start-site at codon 63. In summary, we describe siblings harboring a homozygous c.1A > T variant resulting in defective GPI-anchor biogenesis and highlight the importance of exploring low-coverage variants within autozygous regions.
This suggests that PIGH mutations may cause a syndrome with developmental delay and autism, but without an epileptic encephalopathy, and should increase the awareness of the potentially deleterious nature of biallelic variants in this gene.
Results from a study on gene expression variability markers in early-stage human embryos shows that PIGH is a putative expression variability marker for the 3-day, 8-cell embryo stage.
This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum.
, phosphatidylinositol N-acetylglucosaminyltransferase subunit H
, phosphatidylinositol glycan, class H
, phosphatidylinositol-glycan biosynthesis class H protein
, phosphatidylinositol-glycan biosynthesis, class H protein