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PIGW

Chr 17q12

phosphatidylinositol glycan anchor biosynthesis class W

Aliases:
Gwt1, FLJ37433, PIG-W
MANE:
ENST00000614443.2

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital disorders of glycosylation

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hyperphosphatasia-intellectual disability syndrome

    0.65
  • hereditary disease

    0.42
  • hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

    0.40
  • Global developmental delay

    0.27
  • Abnormal skeletal morphology

    0.27
  • cleft palate

    0.27
  • schizophrenia

    0.06
  • anorexia nervosa

    0.05
  • attention deficit-hyperactivity disorder

    0.05
  • type 2 diabetes mellitus

    0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Glucosaminyl-phosphatidylinositol-acyltransferase PIGW

Acyltransferase that catalyzes the acyl transfer from an acyl-CoA at the 2-OH position of the inositol ring of a 6-(alpha-D-glucosaminyl)-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol (glucosaminyl phosphatidylinositol, GlcN-PI) to generate a 2-acyl-6-alpha-D-glucosaminyl-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol (glucosaminyl acyl phosphatidylinositol, GlcN-(acyl)PI) and participates in the fourth step of GPI-anchor biosynthesis (By similarity). Required for the transport of GPI-anchored proteins to the plasma membrane (PubMed:24367057). Acylation during GPI-anchor biosynthesis is not essential for the subsequent mannosylation and is usually removed soon after the attachment of GPIs to proteins (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.