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LYZ

Chr 12q15

lysozyme

MANE:
ENST00000261267.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hereditary systemic amyloidosis

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Periodic fever syndromes

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • familial visceral amyloidosis

    0.62
  • Familial renal amyloidosis

    0.62
  • amyloidosis, hereditary systemic 5

    0.55
  • Oral ulcer

    0.48
  • AL amyloidosis

    0.47
  • Renal amyloidosis

    0.47
  • hypertensive disorder

    0.46
  • ALys amyloidosis

    0.37
  • Familial renal amyloidosis due to lysozyme variant

    0.37
  • alcohol drinking

    0.24

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

Protein function (UniProt)

Lysozyme C

Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte-macrophage system and enhance the activity of immunoagents

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.