The pigk gene encodes a phosphatidylinositol glycan anchor biosynthesis class k protein, which is an enzyme involved in glycosylphosphatidylinositol (gpi) anchor biosynthesis. this membrane-associated ...[+]

The pigk gene encodes a phosphatidylinositol glycan anchor biosynthesis class k protein, which is an enzyme involved in glycosylphosphatidylinositol (gpi) anchor biosynthesis. this membrane-associated protein localizes to the endoplasmic reticulum and functions as a gpi transamidase complex subunit required for attaching gpi anchors to proteins, facilitating their attachment to the plasma membrane. expression is found in the oocyte, brain, eye, spinal cord, and pronephros. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD