PIGV : phosphatidylinositol glycan anchor biosynthesis class V
Description
The PIGV (phosphatidylinositol glycan anchor biosynthesis class V) is a protein-coding gene located on chromosome 1.
The PIGV gene provides instructions for making an enzyme called GPI mannosyltransferase 2. This enzyme participates in a series of steps that produce a molecule called a glycosylphosphatidylinositol (GPI) anchor. Specifically, GPI mannosyltransferase 2 adds the second of three mannose molecules to the GPI anchor. This process occurs in the endoplasmic reticulum, a structure involved in protein processing and transport within cells. The complete GPI anchor attaches to various proteins in the endoplasmic reticulum. Once the anchor and protein are bound, the anchor attaches itself to the outer surface of the cell membrane, ensuring the protein's availability when needed.
PIGV is also known as GPI-MT-II, HPMRS1, PIG-V.
Associated Diseases
- Hyperphosphatasia-intellectual disability syndrome
- Hyperphosphatasia with mental retardation
- Mabry syndrome
