PIGG

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]

Description

Phosphatidylinositol glycan anchor biosynthesis class G

Tissue specificity

Low tissue specificity

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

4 (499210 - 540200)

Ensembl ID

ENSG00000174227  (ver. 103.38)

Orthologs

Mouse Pigg: ENSMUSG00000029263

UniProt

Q5H8A4

neXtProt

NX_Q5H8A4

Human splice variants
Mouse splice variants

Protein structure