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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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LAMA1
laminin subunit alpha 1
Chromosome 18 Β· 18p11.31
NCBI Gene: 284217Ensembl: ENSG00000101680.17HGNC: HGNC:6481UniProt: P25391
108PubMed Papers
21Diseases
1Drugs
126Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615basement membraneprotein bindinglaminin-111 trimerataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndromeAtaxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrometype 2 diabetes mellitusgenetic disorder
✦AI Summary

LAMA1 encodes laminin subunit alpha 1, a critical extracellular matrix protein that mediates cell attachment, migration, and tissue organization during development 1. As a component of laminin-1 (laminin-111), LAMA1 functions through multiple signaling pathways: it serves as a ligand for alpha-dystroglycan, activates PI3K/AKT and RAC1 signaling, and promotes acetylcholine receptor clustering at the neuromuscular junction 2. LAMA1 shows high expression in trophectoderm but lower expression in the inner cell mass during early embryonic development 3. Biallelic LAMA1 mutations cause Poretti-Boltshauser syndrome, characterized by cerebellar dysplasia with cysts, high myopia, and variable retinal dystrophy 1, 4. Notably, LAMA1 can functionally compensate for deficiency of LAMA2 (laminin alpha-2), making CRISPRa-mediated LAMA1 upregulation a potential therapeutic strategy for merosin-deficient muscular dystrophy 2. LAMA1 expression is dysregulated in pathological contexts including glioblastomas, where elevated LAMA1 correlates with angiogenesis and patient survival 5, and in osteosarcomas as a potential diagnostic marker 6. LAMA1 has been identified as a germline risk variant associated with breast and colorectal cancer predisposition 7.

Sources cited
1
Biallelic LAMA1 mutations cause cerebellar dysplasia with cysts and retinal dystrophy (Poretti-Boltshauser syndrome)
PMID: 25105227
2
LAMA1 mutations cause variable retinal manifestations including retinal dystrophy and abnormal retinal vascularization
PMID: 35616092
3
LAMA1 upregulation can compensate for LAMA2 deficiency and is a potential therapeutic strategy for merosin-deficient muscular dystrophy
PMID: 36945402
4
LAMA1 shows lower expression in inner cell mass compared to trophectoderm in preimplantation embryos
PMID: 28369516
5
LAMA1 expression is elevated in glioblastomas and correlates with patient survival
PMID: 38775886
6
LAMA1 is identified as a cell adhesion-associated gene and potential diagnostic marker in osteosarcoma
PMID: 29207108
7
LAMA1 variants are associated with breast and colorectal cancer predisposition
PMID: 39408606
Disease Associationsβ“˜21
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndromeOpen Targets
0.81Strong
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeOpen Targets
0.79Strong
type 2 diabetes mellitusOpen Targets
0.49Moderate
genetic disorderOpen Targets
0.49Moderate
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.46Moderate
eye diseaseOpen Targets
0.44Moderate
Retinal dystrophyOpen Targets
0.40Moderate
diabetes mellitusOpen Targets
0.38Weak
Abnormal retinal morphologyOpen Targets
0.37Weak
bacterial diseaseOpen Targets
0.37Weak
alcohol drinkingOpen Targets
0.35Weak
retinopathyOpen Targets
0.34Weak
aortic aneurysmOpen Targets
0.33Weak
Abdominal Aortic AneurysmOpen Targets
0.33Weak
thyroid diseaseOpen Targets
0.32Weak
diaphragm diseaseOpen Targets
0.28Weak
strokeOpen Targets
0.28Weak
tibia fractureOpen Targets
0.28Weak
occlusion precerebral arteryOpen Targets
0.27Weak
multinodular goiterOpen Targets
0.27Weak
Poretti-Boltshauser syndromeUniProt
Pathogenic Variants126
NM_005559.4(LAMA1):c.2344C>T (p.Arg782Ter)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 782
NM_005559.4(LAMA1):c.8556+1G>APathogenic
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome|not provided|Lung cancer
β˜…β˜…β˜†β˜†2025
NM_005559.4(LAMA1):c.8761C>T (p.Arg2921Ter)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 2921
NM_005559.4(LAMA1):c.1243del (p.His415fs)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 415
NM_005559.4(LAMA1):c.2935del (p.Arg979fs)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 979
NM_005559.4(LAMA1):c.7180C>T (p.Arg2394Ter)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 2394
NM_005559.4(LAMA1):c.184C>T (p.Arg62Ter)Pathogenic
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 62
NM_005559.4(LAMA1):c.4676_4679del (p.Glu1559fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1559
NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs)Pathogenic
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 2337
NM_005559.4(LAMA1):c.5512C>T (p.Gln1838Ter)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 1838
NM_005559.4(LAMA1):c.8737del (p.Asp2913fs)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 2913
NM_005559.4(LAMA1):c.7195+2T>ALikely pathogenic
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β˜…β˜…β˜†β˜†2023
NM_005559.4(LAMA1):c.3919C>T (p.Arg1307Ter)Pathogenic
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1307
NM_005559.4(LAMA1):c.4075delinsCTA (p.Leu1359_Glu1360insTer)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 1359
NM_005559.4(LAMA1):c.1034del (p.Gln345fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 345
NM_005559.4(LAMA1):c.5407C>T (p.Gln1803Ter)Pathogenic
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 1803
NM_005559.4(LAMA1):c.4676del (p.Glu1559fs)Pathogenic
not provided|Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 1559
NM_005559.4(LAMA1):c.1942_1948del (p.Phe648fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 648
NM_005559.4(LAMA1):c.6299del (p.Leu2099_Ser2100insTer)Pathogenic
not provided
β˜…β˜…β˜†β˜†2017β†’ Residue 2099
NM_005559.4(LAMA1):c.2823del (p.Leu942fs)Pathogenic
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
β˜…β˜†β˜†β˜†2026β†’ Residue 942
View on ClinVar β†—
Drug Targets1
OCRIPLASMINApproved
Laminin hydrolytic enzyme
Related Genes
VEGFAProtein interaction98%COL18A1Protein interaction98%ITGA3Protein interaction98%ITGA5Protein interaction95%SV2AProtein interaction95%ITGAVProtein interaction93%
Tissue Expression6 tissues
Ovary
100%
Lung
27%
Brain
25%
Liver
13%
Heart
5%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
LAMA1VEGFACOL18A1ITGA3ITGA5SV2AITGAV
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P25391
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.67LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.60 [0.53–0.67]
RankingsWhere LAMA1 stands among ~20K protein-coding genes
  • #4,408of 20,598
    Most Researched108 Β· top quartile
  • #942of 1,025
    FDA-Approved Drug Targets1
  • #620of 5,498
    Most Pathogenic Variants126 Β· top quartile
  • #4,971of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedLAMA1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
RTN4/Nogo-A-S1PR2 negatively regulates angiogenesis and secondary neural repair through enhancing vascular autophagy in the thalamus after cerebral cortical infarction.
PMID: 35263212
Autophagy Β· 2022
1.00
2
CRISPRa-induced upregulation of human
PMID: 36945402
bioRxiv Β· 2023
0.90
3
Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.
PMID: 39408606
Int J Mol Sci Β· 2024
0.80
4
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
PMID: 25105227
Am J Hum Genet Β· 2014
0.70
5
Variability of retinopathy consequent upon novel mutations in LAMA1.
PMID: 35616092
Ophthalmic Genet Β· 2022
0.60