Aliases for PGAP1 Gene
External Ids for PGAP1 Gene
Previous GeneCards Identifiers for PGAP1 Gene
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]
GeneCards Summary for PGAP1 Gene
PGAP1 (Post-GPI Attachment To Proteins 1) is a Protein Coding gene. Diseases associated with PGAP1 include Mental Retardation, Autosomal Recessive 42 and Autosomal Recessive Spastic Paraplegia Type 67. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism. GO annotations related to this gene include hydrolase activity, acting on ester bonds and phosphoric ester hydrolase activity.
UniProtKB/Swiss-Prot for PGAP1 Gene
Involved in inositol deacylation of GPI-anchored proteins. GPI inositol deacylation may important for efficient transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi (By similarity).