PIGM gene

phosphatidylinositol glycan anchor biosynthesis class M

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

From NCBI Gene:

This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

From UniProt:

Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the first alpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assembly.

From NCBI Gene:

  • Glycosylphosphatidylinositol deficiency

From UniProt:

Glycosylphosphatidylinositol deficiency (GPID): Autosomal recessive trait that results in a propensity to venous thrombosis and seizures. Deficiency is due to a point mutation in the regulatory sequences of PIGM that disrupts binding of the transcription factor SP1 to its cognate promoter motif, leading to a strong reduction of expression. [MIM:610293]

Cytogenetic Location: 1q23.2, which is the long (q) arm of chromosome 1 at position 23.2

Molecular Location: base pairs 160,027,672 to 160,031,993 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q23.2, which is the long (q) arm of chromosome 1 at position 23.2
  • GPI-MT-I