| Entrez Gene ID | 54872 |
|---|---|
| Official Gene Symbol | PIGG (GeneCards) |
| Full name | phosphatidylinositol glycan anchor biosynthesis class G |
| Location | 4p16.3 |
| Other ids | Vega : OTTHUMG00000112457 MIM : 616918 HGNC : HGNC:25985 Ensembl : ENSG00000174227 |
| Other names | GPI7, LAS21, MRT53, PRO4405, RLGS1930 |
| Summary | This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1504 | 54872 | PIGG | 4 | 499570 | 499570 | Autism Spectrum Disorders | NextSeq500 v2 |
| 29754 | 54872 | PIGG | 4 | 499570 | 499570 | Autism Spectrum Disorders | NextSeq500 v2 NextSeq500 |