PIGN (gene)

PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N) is a gene that encodes a protein involved in the glycosylphosphatidylinositol (GPI) anchor biosynthesis pathway. This gene is located on the short arm of chromosome 18 (18p11.32).

Function

The PIGN gene encodes a protein that is part of the GPI anchor biosynthesis pathway. GPI anchors are glycolipids that attach to the C-terminus of a protein and serve to anchor the protein to the cell membrane. The PIGN protein is involved in the transfer of phosphoethanolamine to the first mannose of the GPI anchor, a critical step in the biosynthesis pathway.

Clinical significance

Mutations in the PIGN gene have been associated with multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1), a rare genetic disorder characterized by developmental delay, hypotonia, seizures, and multiple congenital anomalies.

See also

• Glycosylphosphatidylinositol
• Phosphoethanolamine
• Mannose
• Chromosome 18

References

‎