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PIGC joins the list of genes in which mutations result in defective biosynthesis of GPI (show GNPDA1 Proteins) anchoring, manifesting by global developmental delay and seizure disorder.
Genes within recently identified loci associated with waist-hip ratio (WHR) exhibit fat depot-specific mRNA expression, which correlates with obesity-related traits. Adipose tissue (AT) mRNA expression of 6 genes (TBX15 (show TBX15 Proteins)/WARS2 (show WARS2 Proteins), STAB1, PIGC, ZNRF3 (show ZNRF3 Proteins), GRB14 (show GRB14 Proteins)
This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized.
, phosphatidylinositol N-acetylglucosaminyltransferase subunit C
, phosphatidylinositol-glycan biosynthesis class C protein
, phosphatidylinositol-glycan biosynthesis, class C protein
, phosphatidylinositol glycan, classC
, phosphatidylinositol glycan, class C