PIGN

(redirected from MCAHS)

PIGN

A gene on chromosome 18q21.33 that encodes an ethanolamine phosphate transferase involved in glycosylphosphatidylinositol (GPI)-anchor and glycolipid biosynthesis.

Molecular pathology
Defects in PIGN cause multiple congenital anomalies-hypotonia-seizures syndrome type 1.
References in periodicals archive ?
(74) PIGN deficiency is now termed MCAHS syndrome type 1 (for multiple congenital anomalies with hypotonia and seizures) or MCAHS1.
(76,77) Inherited PIGA deficiency is now termed MCAHS type 2 (MCAHS2).
Abbreviations: C: carboxyl; CHO: Chinese hamster ovary; Dol-P-Man: dolichol-phosphate mannose; EBV: Epstein-Barr virus; ER: endoplasmic reticulum; EtNP: ethanolamine phosphate; GalNAc: N-acetylgalactosamine; GlcN: glucosamine; GlcNAc: N-acetylglucosamine; GPI: glycosylphosphatidylinositol; GPI-AP: GPI-anchored protein; GPI-GnT: GPI-GlcNAc transferase; HPMRS: hyperphosphatasia with mental retardation syndrome; IGD: inherited GPI deficiency; Man: mannose; MCAHS: multiple congenital anomalies with hypotonia and seizures; N: amino; PI: phosphatidylinositol; PI-PLC: PI-specific phospholipase C; PNH: paroxysmal nocturnal hemoglobinuria.