PIGY gene

phosphatidylinositol glycan anchor biosynthesis class Y

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

From NCBI Gene:

The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. The transcript for this gene is bicistronic. The downstream open reading frame encodes this GPI-GnT complex protein, while the upstream open reading frame encodes a protein with unknown function, as represented by GeneID:100996939. [provided by RefSeq, Aug 2012]

From UniProt:

Component of the GPI-GlcNAc transferase (GPI-GnT) complex in the endoplasmic reticulum, a complex that catalyzes transfer of GlcNAc from UDP-GlcNAc to an acceptor phosphatidylinositol, the first step in the production of GPI-anchors for cell surface proteins. May act by regulating the catalytic subunit PIGA.

From NCBI Gene:

  • Hyperphosphatasia with mental retardation syndrome 6

From UniProt:

Hyperphosphatasia with mental retardation syndrome 6 (HPMRS6): An autosomal recessive, multisystem disorder characterized by severe developmental delay, dysmorphism, seizures, cataracts, and early death in some patients. [MIM:616809]

Cytogenetic Location: 4q22.1, which is the long (q) arm of chromosome 4 at position 22.1

Molecular Location: base pairs 88,520,978 to 88,523,801 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q22.1, which is the long (q) arm of chromosome 4 at position 22.1
  • HPMRS6
  • PIG-Y