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PIGY

Chr 4q22.1

phosphatidylinositol glycan anchor biosynthesis class Y

Aliases:
MGC14156, PIG-Y
MANE:
ENST00000527353.2

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.55
  • hyperphosphatasia-intellectual disability syndrome

    0.53
  • hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

    0.51
  • lysosomal storage disease

    0.37
  • mitochondrial disease

    0.33
  • chronic obstructive pulmonary disease

    0.03
  • response to bronchodilator

    0.03
  • malunion fracture

    0.03
  • colorectal cancer

    0.02
  • ulcerative colitis

    0.02

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

Protein function (UniProt)

Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y

Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis (PubMed:16162815). May act by regulating the catalytic subunit PIGA (PubMed:16162815)

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.