Recombinant Human Phosphatidylinositol N-acetylglucosaminyltransferase subunit P (PIGP), Truncated

Uniprot Id

P57054

Target Species

Human

Target Name

PIGP

Target Full Name

Phosphatidylinositol N-acetylglucosaminyltransferase subunit P

Target Function

Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.

Target Involvement

Epileptic encephalopathy, early infantile, 55 (EIEE55)

Target Subcellular Location

Membrane; Multi-pass membrane protein.

Target Protein Families

PIGP family

Target Tissue Specificity

Ubiquitous.

Target Synonyms

PIGP; DCRC; DSCR5; DSCRC; NPD010; Phosphatidylinositol N-acetylglucosaminyltransferase subunit P; Down syndrome critical region protein 5; Down syndrome critical region protein C; Phosphatidylinositol-glycan biosynthesis class P protein; PIG-P

Target Background

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.