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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LAMC3
laminin subunit gamma 3
Chromosome 9 Β· 9q34.12
NCBI Gene: 10319Ensembl: ENSG00000050555.20HGNC: HGNC:6494UniProt: Q8N2D6
35PubMed Papers
21Diseases
1Drugs
102Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
basement membraneGO:0005615extracellular matrix structural constituentsubstrate adhesion-dependent cell spreadingoccipital pachygyria and polymicrogyriagenetic disordereye diseaseandrogenetic alopecia
✦AI Summary

LAMC3 encodes laminin subunit gamma 3, a component of basement membrane extracellular matrix molecules present in skin, heart, lung, brain, and retina 1. As a laminin subunit, LAMC3 mediates cell attachment, migration, and tissue organization during development through interactions with extracellular matrix components and cell adhesion receptors. LAMC3 is involved in cortical development, with mutations causing complex bilateral occipital cortical malformations including polymicrogyria, pachygyria, and periventricular nodular heterotopia 234. De novo LAMC3 mutations have been identified in sporadic autism spectrum disorder cases 5. Beyond neurodevelopment, LAMC3 expression is significantly decreased in ovarian cancer tissues, particularly in chemotherapy-resistant and advanced-stage tumors 6. Low LAMC3 expression correlates with poor disease-free and overall survival in ovarian cancer, and LAMC3 interference reduces drug resistance in carboplatin-resistant cells by affecting cell cycle, autophagy, ferroptosis, and lysosome pathways 76. LAMC3 has also been identified as a novel fusion partner in acute myeloid leukemia with NUP98 rearrangements 8. These findings establish LAMC3 as a multifunctional protein critical for cortical development and a potential biomarker for cancer prognosis and therapeutic targeting.

Sources cited
1
LAMC3 gene structure and tissue distribution (skin, heart, lung, brain, retina)
PMID: 11162474
2
De novo LAMC3 mutations identified in sporadic autism spectrum disorder
PMID: 22495309
3
Homozygous LAMC3 mutations cause occipital cortical malformations affecting visual attention networks
PMID: 29626609
4
LAMC3 mutations cause generalized polymicrogyria and epilepsy beyond occipital lobes
PMID: 29247375
5
Biallelic LAMC3 variants associated with posterior periventricular nodular heterotopia
PMID: 33639934
6
LAMC3 expression decreased in ovarian cancer, correlates with poor prognosis and drug resistance
PMID: 34304441
7
LAMC3 interference reduces carboplatin resistance via cell cycle, autophagy, ferroptosis pathways
PMID: 40593083
8
LAMC3 identified as novel NUP98 fusion partner in acute myeloid leukemia
PMID: 40820841
Disease Associationsβ“˜21
occipital pachygyria and polymicrogyriaOpen Targets
0.78Strong
genetic disorderOpen Targets
0.51Moderate
eye diseaseOpen Targets
0.44Moderate
androgenetic alopeciaOpen Targets
0.43Moderate
Abnormal retinal morphologyOpen Targets
0.37Weak
bacterial diseaseOpen Targets
0.37Weak
generalized anxiety disorderOpen Targets
0.31Weak
hydronephrosisOpen Targets
0.31Weak
male reproductive organ cancerOpen Targets
0.28Weak
macular holesOpen Targets
0.26Weak
vertebral column disorderOpen Targets
0.19Weak
Intellectual disabilityOpen Targets
0.16Weak
otitis externaOpen Targets
0.09Suggestive
strokeOpen Targets
0.09Suggestive
ovarian cancerOpen Targets
0.08Suggestive
arterial occlusive diseaseOpen Targets
0.07Suggestive
deep vein thrombosisOpen Targets
0.07Suggestive
diabetic macular edemaOpen Targets
0.07Suggestive
macular degenerationOpen Targets
0.07Suggestive
ThrombocytopeniaOpen Targets
0.06Suggestive
Cortical malformations occipitalUniProt
Pathogenic Variants102
NM_006059.4(LAMC3):c.1166-1G>ALikely pathogenic
not provided|Occipital pachygyria and polymicrogyria
β˜…β˜…β˜†β˜†2026
NM_006059.4(LAMC3):c.809+2_809+8delLikely pathogenic
not provided|Occipital pachygyria and polymicrogyria
β˜…β˜…β˜†β˜†2025
NM_006059.4(LAMC3):c.976+1G>APathogenic
not provided
β˜…β˜…β˜†β˜†2025
NM_006059.4(LAMC3):c.800_801del (p.Val267fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 267
NM_006059.4(LAMC3):c.3502_3503del (p.Asp1168fs)Pathogenic
not provided|Occipital pachygyria and polymicrogyria
β˜…β˜…β˜†β˜†2025β†’ Residue 1168
NM_006059.4(LAMC3):c.3211+1G>ALikely pathogenic
not provided
β˜…β˜…β˜†β˜†2025
NM_006059.4(LAMC3):c.1033_1039del (p.Ser345fs)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 345
NM_006059.4(LAMC3):c.2430C>A (p.Cys810Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 810
NM_006059.4(LAMC3):c.1262C>A (p.Ser421Ter)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 421
NM_006059.4(LAMC3):c.332dup (p.Val112fs)Pathogenic
not provided|Occipital pachygyria and polymicrogyria
β˜…β˜…β˜†β˜†2024β†’ Residue 112
NM_006059.4(LAMC3):c.1648C>T (p.Gln550Ter)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 550
NM_006059.4(LAMC3):c.3211+2T>CLikely pathogenic
Occipital pachygyria and polymicrogyria|not provided
β˜…β˜…β˜†β˜†2023
NM_006059.4(LAMC3):c.903_904del (p.Cys301_Glu302delinsTer)Likely pathogenic
Occipital pachygyria and polymicrogyria
β˜…β˜…β˜†β˜†2022β†’ Residue 301
NM_006059.4(LAMC3):c.3181del (p.Asp1061fs)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2021β†’ Residue 1061
NM_006059.4(LAMC3):c.4378-1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_006059.4(LAMC3):c.2090del (p.Gln697fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 697
NM_006059.4(LAMC3):c.247del (p.Gln83fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 83
NM_006059.4(LAMC3):c.3283C>T (p.Gln1095Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1095
NM_006059.4(LAMC3):c.2890+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_006059.4(LAMC3):c.976+1G>TPathogenic
not provided
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Drug Targets1
OCRIPLASMINApproved
Laminin hydrolytic enzyme
Related Genes
LAMB4Shared pathway100%ITGA6Protein interaction100%CDT1Protein interaction100%ITGA3Protein interaction98%DAG1Protein interaction97%SV2BProtein interaction97%
Tissue Expression6 tissues
Lung
100%
Liver
40%
Brain
23%
Ovary
12%
Heart
7%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
LAMC3LAMB4ITGA6CDT1ITGA3DAG1SV2B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8N2D6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.91LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.78 [0.68–0.91]
RankingsWhere LAMC3 stands among ~20K protein-coding genes
  • #11,002of 20,598
    Most Researched35
  • #1,018of 1,025
    FDA-Approved Drug Targets1
  • #761of 5,498
    Most Pathogenic Variants102 Β· top quartile
  • #8,281of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedLAMC3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
PMID: 22495309
Nature Β· 2012
1.00
2
Structural analysis and mutation detection strategy for the human LAMC3 gene.
PMID: 11162474
Biochem Biophys Res Commun Β· 2001
0.90
3
LAMC3 interference reduces drug resistance of carboplatin-resistant ovarian cancer cells.
PMID: 40593083
Sci Rep Β· 2025
0.80
4
[Relationships between decreased LAMC3 and poor prognosis in ovarian cancer].
PMID: 34304441
Zhonghua Fu Chan Ke Za Zhi Β· 2021
0.70
5
Homozygous LAMC3 mutation links to structural and functional changes in visual attention networks.
PMID: 29626609
Neuroimage Β· 2019
0.60