laminin subunit alpha 3
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Diagnostic Grade (Green)
Amelogenesis imperfecta
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalEpidermolysis bullosa
BIALLELIC, autosomal or pseudoautosomalEpidermolysis bullosa and congenital skin fragility
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomallaryngo-onycho-cutaneous syndrome
Junctional epidermolysis bullosa, Herlitz type
junctional epidermolysis bullosa Herlitz type
LOC syndrome
epidermolysis bullosa, junctional 2B, severe
junctional epidermolysis bullosa, non-Herlitz type
epidermolysis bullosa, junctional 2A, intermediate
junctional epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
generalized junctional epidermolysis bullosa non-Herlitz type
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Laminin subunit alpha-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
LAMA3 · Q16787-1isoform
No predicted structure exists for the canonical Q16787 sequence; metrics below describe this isoform.
Mean pLDDT
73.1/ 100
Confident
1,724 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
