LAMB1
Chr 7ARADlaminin subunit beta 1
Also known as: CLM, LIS5, LKBMH, LUCAO
The LAMB1 protein is the beta-1 chain of laminin-1, a major basement membrane glycoprotein that mediates cell adhesion, migration, and signaling in the extracellular matrix. Mutations cause leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus as well as adult-onset leukoencephalopathy without lacunae, inherited in both autosomal recessive and autosomal dominant patterns. The pathogenic mechanism involves gain-of-function effects that disrupt normal basement membrane structure and function.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LAMB1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools