Aliases for PGAP2 Gene
External Ids for PGAP2 Gene
Previous HGNC Symbols for PGAP2 Gene
Previous GeneCards Identifiers for PGAP2 Gene
The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017]
GeneCards Summary for PGAP2 Gene
PGAP2 (Post-GPI Attachment To Proteins 2) is a Protein Coding gene. Diseases associated with PGAP2 include Hyperphosphatasia With Mental Retardation Syndrome 3 and Hyperphosphatasia-Intellectual Disability Syndrome. GO annotations related to this gene include protein transporter activity.
UniProtKB/Swiss-Prot for PGAP2 Gene
Involved in the lipid remodeling steps of GPI-anchor maturation. Required for stable expression of GPI-anchored proteins at the cell surface (By similarity).