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.
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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).
Biosynthesis and deficiencies of glycosylphosphatidylinositol

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