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LAMA5

Chr 20q13.33

laminin subunit alpha 5

MANE:
ENST00000252999.7
OMIM: 601033 ↗NCBI: 3911 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Proteinuric renal disease

    BIALLELIC, autosomal or pseudoautosomal

  • Congenital myaesthenic syndrome

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • nephrotic syndrome, IIa 26

    0.76

  • bent bone dysplasia syndrome 2

    0.51

  • LAMA5-related multisystemic syndrome

    0.48

  • nephrotic syndrome

    0.47

  • colorectal cancer

    0.47

  • eye disorder

    0.43

  • hereditary disease

    0.42

  • polyp of colon

    0.41

  • familial idiopathic steroid-resistant nephrotic syndrome

    0.40

  • benign colon neoplasm

    0.39

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

Protein function (UniProt)

Laminin subunit alpha-5

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. Plays a role in the regulation of skeletogenesis, through a mechanism that involves integrin-mediated signaling and PTK2B/PYK2 (PubMed:33242826)

Diseases associated with LAMA5

Curated MONDO disease pages that list LAMA5 among their top associated genes.

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.