LAMA3

Chr 18AR

laminin subunit alpha 3

Also known as: BM600, E170, JEB2A, JEB2B, JEB2C, LAMNA, LOCS

NCBI Gene: 3909 ENSG00000053747 UniProt: Q16787 OMIM: 600805

The LAMA3 protein is a laminin alpha subunit that forms part of heterotrimeric laminin complexes essential for basement membrane formation and function, mediating cell attachment, migration, and tissue organization during development. Mutations cause autosomal recessive junctional epidermolysis bullosa with a spectrum of severity from intermediate (type 2A) to severe (type 2B) forms, as well as laryngoonychocutaneous syndrome (type 2C) which involves skin, laryngeal, and nail abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.69), and these conditions typically present in the neonatal period with skin fragility and blistering.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Epidermolysis bullosa, junctional 2A, intermediateMIM #619783

Epidermolysis bullosa, junctional 2B, severeMIM #619784

Epidermolysis bullosa, junctional 2C, laryngoonychocutaneousMIM #245660

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.69

LOEUF

LOF

Mechanism· G2P

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