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Genome-wide association analyses identified four suggestive loci (PAX3 (show PAX3 Proteins), CCRN4L, PIGQ, and ADAM19 (show Adam19 Proteins))determinants of disease progression in Alzheimer's disease
Genetic studies reveal two novel genes for Ohtahara Syndrome: KCNT1 (show KCNT1 Proteins) and PIGQ.
This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
N-acetylglucosaminyl transferase component Gpi1
, N-acetylglucosamyl transferase component GPI1
, c407A10.1 (GPI1 (N-acetylglucosaminyl transferase component))
, phosphatidylinositol N-acetylglucosaminyltransferase subunit Q
, phosphatidylinositol glycan, class Q
, phosphatidylinositol-glycan biosynthesis class Q protein
, glycosylphosphatidylinositol 1 homolog
, glycosylphosphatidylinositol homolog