Gene: PIGO

Alternate names for this Gene: HPMRS2

Gene Summary: This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene.

Gene is located in Chromosome: 9

Location in Chromosome : 9p13.3

Description of this Gene: phosphatidylinositol glycan anchor biosynthesis class O

Type of Gene: protein-coding

rs1214104267 in PIGO gene and HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 PMID 28337824 2017 Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

PMID 24049131 2013 Vitamin B6-responsive epilepsy due to inherited GPI deficiency.

PMID 22683086 2012 Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

PMID 28545593 2017 PIGO deficiency: palmoplantar keratoderma and novel mutations.

PMID 24417746 2014 PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.

rs556766 in PIGO gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.