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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LAMB1
laminin subunit beta 1
Chromosome 7 Β· 7q31.1
NCBI Gene: 3912Ensembl: ENSG00000091136.15HGNC: HGNC:6486UniProt: A0A7I2V2T9
171PubMed Papers
21Diseases
1Drugs
43Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular matrixextracellular matrix structural constituentprotein bindingneuronal-glial interaction involved in cerebral cortex radial glia guided migrationcobblestone lissencephaly without muscular or ocular involvementLissencephalyeye diseasecorneal disease
✦AI Summary

LAMB1 encodes laminin subunit beta 1, a critical extracellular matrix component that mediates cell attachment, migration, and tissue organization during development 1. As part of laminin heterotrimer complexes, LAMB1 contributes to basement membrane integrity and supports radial glial cell function during cerebral cortical development [UniProt annotation cited in provided context]. In the anterior cingulate cortex, LAMB1 conveys extracellular alterations to intracellular synaptic plasticity; retinoic acid/RARB signaling maintains ECM homeostasis through transcriptional regulation of LAMB1, thereby modulating neuropathic pain and associated anxiodepression 2. During intestinal organoid development, epithelial cells secrete a LAMB1-rich basement membrane that functions as a de novo stem cell niche, with LAMB1 expression spatially restricted to crypt domains 3. In hepatocellular carcinoma, DDX24-mediated stabilization of LAMB1 mRNA promotes tumor progression and is associated with poor prognosis 4. LAMB1 also serves as a biomarker in extracellular vesicles for metastatic prostate cancer diagnosis and risk stratification, demonstrating superior specificity and sensitivity compared to PSA testing 5. Pathogenic LAMB1 mutations cause cerebral small vessel disease and stroke as a monogenic condition 6, and polymorphisms in LAMB1 are associated with chr7 rhinosinusitis, implicating extracellular matrix dysfunction in disease pathogenesis 7.

Sources cited
1
LAMB1 in anterior cingulate cortex conveys extracellular alterations to synaptic plasticity and modulates neuropathic pain; RARB transcriptionally regulates LAMB1 to maintain ECM homeostasis
PMID: 40591414
2
Epithelial cells secrete LAMB1-rich basement membrane as stem cell niche; LAMB1 expression is spatially restricted to crypt domain in intestinal organoids
PMID: 40680738
3
LAMB1 is one of 10 senescent CAF-related genes in hepatocellular carcinoma prognostic model
PMID: 40855439
4
LAMB1 polymorphisms associated with chronic rhinosinusitis; upregulation in CRS patient epithelial cells implicates extracellular matrix in disease development
PMID: 21499907
5
DDX24 binds and stabilizes LAMB1 mRNA to promote hepatocellular carcinoma migration and proliferation; associated with poor HCC prognosis
PMID: 35763670
6
Laminins are indispensable building blocks for basement membranes that bridge intracellular and extracellular compartments
PMID: 23263632
7
LAMB1 mutations cause cerebral small vessel disease and stroke as a monogenic condition
PMID: 39322384
8
LAMB1 in small extracellular vesicles is highly expressed in metastatic prostate cancer plasma samples; demonstrates superior specificity and sensitivity for cancer diagnosis compared to PSA
PMID: 38590132
Disease Associationsβ“˜21
cobblestone lissencephaly without muscular or ocular involvementOpen Targets
0.80Strong
LissencephalyOpen Targets
0.54Moderate
eye diseaseOpen Targets
0.44Moderate
corneal diseaseOpen Targets
0.43Moderate
Fuchs' endothelial dystrophyOpen Targets
0.43Moderate
corneal dystrophyOpen Targets
0.43Moderate
Fuchs endothelial corneal dystrophyOpen Targets
0.43Moderate
COVID-19Open Targets
0.41Moderate
Abnormal retinal morphologyOpen Targets
0.37Weak
bacterial diseaseOpen Targets
0.37Weak
leukodystrophyOpen Targets
0.34Weak
classic lissencephalyOpen Targets
0.34Weak
autism spectrum disorderOpen Targets
0.33Weak
multiple sclerosisOpen Targets
0.32Weak
glomerulonephritisOpen Targets
0.32Weak
obesityOpen Targets
0.32Weak
Intellectual disabilityOpen Targets
0.30Weak
inflammatory bowel diseaseOpen Targets
0.28Weak
poisoningOpen Targets
0.28Weak
eating disorderOpen Targets
0.28Weak
Lissencephaly 5UniProt
Pathogenic Variants43
NM_002291.3(LAMB1):c.4188+1G>CPathogenic
not provided|Cobblestone lissencephaly without muscular or ocular involvement|LAMB1-related disorder|Acute myeloid leukemia|Classic lissencephaly
β˜…β˜…β˜†β˜†2025
NM_002291.3(LAMB1):c.1189C>T (p.Arg397Ter)Pathogenic
not provided|Cobblestone lissencephaly without muscular or ocular involvement
β˜…β˜…β˜†β˜†2022β†’ Residue 397
NM_002291.3(LAMB1):c.1729C>T (p.Gln577Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 577
NM_002291.3(LAMB1):c.4537+1G>ALikely pathogenic
Cobblestone lissencephaly without muscular or ocular involvement
β˜…β˜†β˜†β˜†2025
NM_002291.3(LAMB1):c.3803_3804dup (p.Val1269fs)Pathogenic
Cobblestone lissencephaly without muscular or ocular involvement
β˜…β˜†β˜†β˜†2025β†’ Residue 1269
NM_002291.3(LAMB1):c.1522C>T (p.Arg508Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 508
NM_002291.3(LAMB1):c.5066_5072delCTTTAGAPathogenic
Classic lissencephaly
β˜…β˜†β˜†β˜†2025
NM_002291.3(LAMB1):c.3877G>T (p.Glu1293Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1293
NM_002291.3(LAMB1):c.677-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_002291.3(LAMB1):c.2120dup (p.Met707fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 707
NM_002291.3(LAMB1):c.213+1delPathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_002291.3(LAMB1):c.1897C>T (p.Arg633Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 633
NM_002291.3(LAMB1):c.780T>G (p.Tyr260Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 260
NM_002291.3(LAMB1):c.3499C>T (p.Arg1167Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1167
NM_002291.3(LAMB1):c.880-1G>ALikely pathogenic
Cobblestone lissencephaly without muscular or ocular involvement
β˜…β˜†β˜†β˜†2024
NM_002291.3(LAMB1):c.1370-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_002291.3(LAMB1):c.1000+1G>TLikely pathogenic
Cobblestone lissencephaly without muscular or ocular involvement
β˜…β˜†β˜†β˜†2023
NM_002291.3(LAMB1):c.1242T>A (p.Tyr414Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 414
NM_002291.3(LAMB1):c.1526del (p.Pro509fs)Pathogenic
Cobblestone lissencephaly without muscular or ocular involvement
β˜…β˜†β˜†β˜†2023β†’ Residue 509
GRCh38/hg38 7q31.1(chr7:107951205-107952243)x0Likely pathogenic
Cobblestone lissencephaly without muscular or ocular involvement
β˜…β˜†β˜†β˜†2023
View on ClinVar β†—
Drug Targets1
OCRIPLASMINApproved
Laminin hydrolytic enzyme
Related Genes
HSPG2Protein interaction100%LAMB3Protein interaction98%LAMC2Protein interaction97%PTK2Protein interaction96%ITGA5Protein interaction95%ITGAVProtein interaction93%
Tissue Expression6 tissues
Lung
100%
Heart
68%
Ovary
29%
Liver
19%
Brain
6%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
LAMB1HSPG2LAMB3LAMC2PTK2ITGA5ITGAV
PROTEIN STRUCTURE
Preparing viewer…
PDB5XAU Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.60LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.51 [0.44–0.60]
RankingsWhere LAMB1 stands among ~20K protein-coding genes
  • #2,578of 20,598
    Most Researched171 Β· top quartile
  • #882of 1,025
    FDA-Approved Drug Targets1
  • #1,460of 5,498
    Most Pathogenic Variants43
  • #4,123of 17,882
    Most Constrained (LOEUF)0.60 Β· top quartile
Genes detectedLAMB1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Cingulate retinoic acid signaling regulates neuropathic pain and comorbid anxiodepression via extracellular matrix homeostasis.
PMID: 40591414
J Clin Invest Β· 2025
1.00
2
An extracellular matrix niche secreted by epithelial cells drives intestinal organoid formation.
PMID: 40680738
Dev Cell Β· 2025
0.90
3
Senescent fibroblasts secrete CTHRC1 to promote cancer stemness in hepatocellular carcinoma.
PMID: 40855439
Cell Commun Signal Β· 2025
0.80
4
Genetics of rhinosinusitis.
PMID: 21499907
Curr Allergy Asthma Rep Β· 2011
0.70
5
Proteomics and Bioinformatics Identify Drug-Resistant-Related Genes with Prognostic Potential in Cholangiocarcinoma.
PMID: 39199357
Biomolecules Β· 2024
0.68