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LAMC2

Chr 1q25.3

laminin subunit gamma 2

Aliases:
nicein-100kDa, kalinin-105kDa, BM600-100kDa
MANE:
ENST00000264144.5

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Epidermolysis bullosa

    BIALLELIC, autosomal or pseudoautosomal
  • Epidermolysis bullosa and congenital skin fragility

    BIALLELIC, autosomal or pseudoautosomal
  • Amelogenesis imperfecta

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Junctional epidermolysis bullosa, Herlitz type

    0.71
  • junctional epidermolysis bullosa Herlitz type

    0.70
  • epidermolysis bullosa, junctional 3B, severe

    0.65
  • epidermolysis bullosa, junctional 3A, intermediate

    0.65
  • junctional epidermolysis bullosa

    0.65
  • junctional epidermolysis bullosa, non-Herlitz type

    0.62
  • Generalized junctional epidermolysis bullosa, non-Herlitz type

    0.56
  • junctional epidermolysis bullosa inversa

    0.48
  • localized junctional epidermolysis bullosa, non-Herlitz type

    0.47
  • eye disorder

    0.43

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

Protein function (UniProt)

Laminin subunit gamma-2

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. Ladsin exerts cell-scattering activity toward a wide variety of cells, including epithelial, endothelial, and fibroblastic cells

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.