PIGN wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PIGN wild-type allele is located in the vicinity of 18q21.33 and is approximately 282 kb in length. This allele, which encodes GPI ethanolamine phosphate transferase 1 protein, is involved in the synthesis of glycosylphosphatidylinositol-anchors used in post-translational protein modification. Mutations in the gene are associated with multiple congenital anomalies-hypotonia-seizures syndrome 1.

**Synonyms:** - MCAHS - MCAHS1 - MCD4 - MDC4 - PIG-N - Phosphatidylinositol Glycan Anchor Biosynthesis Class N wt Allele - Phosphatidylinositol Glycan, Class N Gene