PIGN

phosphatidylinositol glycan anchor biosynthesis class N

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]

From UniProt:

Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation.

From NCBI Gene:

  • Multiple congenital anomalies-hypotonia-seizures syndrome 1

From UniProt:

Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1): An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age. [MIM:614080]

Cytogenetic Location: 18q21.33, which is the long (q) arm of chromosome 18 at position 21.33

Molecular Location: base pairs 62,044,224 to 62,187,118 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q21.33, which is the long (q) arm of chromosome 18 at position 21.33
  • MCAHS
  • MCAHS1
  • MCD4
  • MDC4
  • PIG-N