PIGG (NM_001289057) - phosphatidylinositol glycan anchor biosynthesis class G
Gpi Ethanolamine Phosphate Transferase 2 Isoform 7
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Protein
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Protein 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].
Evidence data:
Transcript exon combination :: AK097244.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350]
- Strand
- +
- Chromosome
- 4
- Protein
- 299 residues
- All mutations
- 64
- PTM sites
- 6
- CDS
- 494,297 - 515,501
- Transcription
- 492,988 - 516,632
Usage summary
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PTM site
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Kinase, PTM site or protein
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