PGAP3 Chromosome 17
Post-GPI attachment to proteins phospholipase 3
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What This Gene Does
This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause an autosomal recessive form of neurologic hyperphosphatasia with cognitive disability (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
Associated Conditions (4)
Inborn genetic diseases
Hyperphosphatasia with intellectual disability syndrome 4
Hyperphosphatasia-intellectual disability syndrome
PGAP3-related disorder
Key Variants
RS115651105
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150483675
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 4, Inborn genetic diseases
Health Risk
RS183208638
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
Health Risk
RS2145100763
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
Health Risk
RS565676417
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS749401877
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS759541820
Conflicting classifications of pathogenicity
Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
Health Risk
RS781433220
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057520108
Likely pathogenic
Health Risk
RS2145169684
Likely pathogenic
Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
Health Risk
RS2543759733
Likely pathogenic
Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
Health Risk
RS371549948
Likely pathogenic
Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115651105 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150483675 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 4, Inborn genetic diseases |
| RS183208638 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS2145100763 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS565676417 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749401877 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759541820 | Health Risk | Conflicting classifications of pathogenicity | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS781433220 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057520108 | Health Risk | Likely pathogenic | — |
| RS2145169684 | Health Risk | Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS2543759733 | Health Risk | Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS371549948 | Health Risk | Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS532257048 | Health Risk | Likely pathogenic | — |
| RS765928877 | Health Risk | Likely pathogenic | Hyperphosphatasia-intellectual disability syndrome, Hyperphosphatasia-intellectual disability syndrome |
| RS1242562412 | Health Risk | Pathogenic | Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 4, Inborn genetic diseases |
| RS144574243 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS1555610241 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS1555610292 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS1567870911 | Health Risk | Pathogenic | — |
| RS2057353041 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS2057353122 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS2057593272 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS2145147131 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS2543763064 | Health Risk | Pathogenic | — |
| RS2543809993 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS587777251 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS587777252 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS869312812 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS869312813 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS869312814 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS869312815 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS869312816 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS869312817 | Health Risk | Pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS1567871748 | Health Risk | Pathogenic/Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS200598755 | Health Risk | Pathogenic/Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS202146344 | Health Risk | Pathogenic/Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS746891574 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS750093817 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 4, PGAP3-related disorder |
| RS776720232 | Health Risk | Pathogenic/Likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |