Gene Symbol | PIGG |
Entrez Gene ID | 54872 |
Full Name | phosphatidylinositol glycan anchor biosynthesis class G |
Synonyms | GPI7,LAS21,MRT53,PRO4405,RLGS1930 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal recessive 53, 616917 (3) |