rs36086547
This variant is located in the PGAP1 gene.
▶ClinVar annotation
Intellectual disability, autosomal recessive 42; not specified; Inborn genetic diseases; not provided
View on ClinVar →About PGAP1
The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause an autosomal recessive form of cognitive impairment. [provided by RefSeq, Jul 2017]
View all PGAP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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