PIGS gene

phosphatidylinositol glycan anchor biosynthesis class S

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]

From UniProt:

Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.

From NCBI Gene:

  • GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18

From UniProt:

Glycosylphosphatidylinositol biosynthesis defect 18 (GPIBD18): An autosomal recessive disorder with onset in utero or early infancy and characterized by severe global developmental delay, seizures, hypotonia, weakness, ataxia, and dysmorphic facial features. [MIM:618143]

Cytogenetic Location: 17q11.2, which is the long (q) arm of chromosome 17 at position 11.2

Molecular Location: base pairs 28,553,387 to 28,571,524 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 17q11.2, which is the long (q) arm of chromosome 17 at position 11.2
  • GPIBD18