LAMB3

Chr 1q32.2

laminin subunit beta 3

Aliases:: nicein-125kDa, kalinin-140kDa, BM600-125kDa
MANE:: ENST00000356082.9

OMIM: 150310 ↗NCBI: 3914 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

LAMB3 · Q13751

v62025-08-01

Predicted Aligned Error matrix for LAMB3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.3/ 100

Confident

1,172 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)55%
Low(50–70)18%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Amelogenesis imperfecta
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Epidermolysis bullosa
BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

junctional epidermolysis bullosa, non-Herlitz type
0.80
Junctional epidermolysis bullosa, Herlitz type
0.78
junctional epidermolysis bullosa Herlitz type
0.77
amelogenesis imperfecta type 1A
0.72
Generalized junctional epidermolysis bullosa, non-Herlitz type
0.70
junctional epidermolysis bullosa
0.66
Hypoplastic amelogenesis imperfecta
0.60
junctional epidermolysis bullosa inversa
0.52
localized junctional epidermolysis bullosa, non-Herlitz type
0.51
eye disorder
0.43

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

Protein function (UniProt)

Laminin subunit beta-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