Gene Symbol | PIGW |
Entrez Gene ID | 284098 |
Full Name | phosphatidylinositol glycan anchor biosynthesis class W |
Synonyms | Gwt1,HPMRS5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]. |
Disorder MIM: | |
Disorder Html: | ?Hyperphosphatasia with mental retardation syndrome 5, 616025 (3) |