PIGP gene

phosphatidylinositol glycan anchor biosynthesis class P

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

From NCBI Gene:

This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]

From UniProt:

Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.

From NCBI Gene:

  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55

Cytogenetic Location: 21q22.13, which is the long (q) arm of chromosome 21 at position 22.13

Molecular Location: base pairs 37,065,364 to 37,073,158 on chromosome 21 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 21q22.13, which is the long (q) arm of chromosome 21 at position 22.13
  • DCRC
  • DCRC-S
  • DSCR5
  • DSRC
  • EIEE55
  • PIG-P