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LAMC3

Chr 9q34.12

laminin subunit gamma 3

Aliases:
DKFZp434E202
MANE:
ENST00000361069.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Malformations of cortical development

    BIALLELIC, autosomal or pseudoautosomal
  • Cerebral vascular malformations

  • Intellectual disability

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • occipital pachygyria and polymicrogyria

    0.79
  • hereditary disease

    0.51
  • eye disorder

    0.43
  • androgenetic alopecia

    0.42
  • bacterial infectious disease

    0.37
  • Abnormal retinal morphology

    0.37
  • macular holes

    0.35
  • hydronephrosis

    0.29
  • generalized anxiety disorder

    0.28
  • male reproductive organ cancer

    0.24

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

Protein function (UniProt)

Laminin subunit gamma-3

Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components

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.