Aliases for PIGC Gene
External Ids for PIGC Gene
Previous GeneCards Identifiers for PIGC Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for PIGC Gene
PIGC (Phosphatidylinositol Glycan Anchor Biosynthesis Class C) is a Protein Coding gene. Diseases associated with PIGC include Glycosylphosphatidylinositol Biosynthesis Defect 16 and Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Metabolism and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol N-acetylglucosaminyltransferase activity.
UniProtKB/Swiss-Prot Summary for PIGC Gene
Involved in GPI anchor biosynthesis (PubMed:8806613, PubMed:27694521). Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis (ECO:0000269 PubMed:27694521).