rs2510226730
This variant is located in the PIGW gene.
▶ClinVar annotation
Hyperphosphatasia with intellectual disability syndrome 5
View on ClinVar →About PIGW
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]
View all PIGW variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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