LAMB1

Chr 7q31.1

laminin subunit beta 1

MANE:: ENST00000222399.11

OMIM: 150240 ↗NCBI: 3912 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

LAMB1 · P07942

v62025-08-01

Predicted Aligned Error matrix for LAMB1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.7/ 100

Confident

1,786 residues

Confidence breakdown

Very high(≥ 90)12%
Confident(70–90)62%
Low(50–70)24%
Very low(< 50)3%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset leukodystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus
BIALLELIC, autosomal or pseudoautosomal
Inherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

cobblestone lissencephaly without muscular or ocular involvement
0.80
eye disorder
0.43
corneal disorder
0.42
Fuchs' endothelial dystrophy
0.42
Fuchs endothelial corneal dystrophy
0.42
corneal dystrophy
0.42
classic lissencephaly
0.41
bacterial infectious disease
0.37
Abnormal retinal morphology
0.37
COVID-19
0.36

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

Protein function (UniProt)

Laminin subunit beta-1

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. Involved in the organization of the laminar architecture of the cerebral cortex (PubMed:23472759). It is probably required for the integrity of the basement membrane/glia limitans that serves as an anchor point for the endfeet of radial glial cells and as a physical barrier to migrating neurons (By similarity). Radial glial cells play a central role in cerebral cortical development, where they act both as the proliferative unit of the cerebral cortex and a scaffold for neurons migrating toward the pial surface (By similarity). As a subunit of laminin-1 (also known as laminin-111 or EHS laminin), it is involved in the stimulation of agrin-induced receptor clustering through a MuSK-independent pathway (By similarity)