LAMA3 Gene - Laminin Subunit Alpha 3
Essential component of basement membranes; mutations linked to epidermolysis bullosa and cancer
Gene Information Card
| Symbol | LAMA3 |
|---|---|
| Full Name | Laminin Subunit Alpha 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 3909 ncbi.nlm.nih.gov/gene/3909 |
| Ensembl ID | ENSG00000153774 |
| UniProt ID | Q16787 |
| OMIM ID | 600805 |
| HGNC ID | 6483 |
| Aliases | LAMA3A, LAMA3B, laminin-5 alpha 3, laminin-332 alpha 3 |
Description
The LAMA3 gene encodes the alpha 3 subunit of laminin-332 (formerly laminin-5), a heterotrimeric extracellular matrix protein critical for basement membrane assembly and epithelial cell adhesion. Mutations in LAMA3 cause junctional epidermolysis bullosa (JEB), a severe blistering disorder. Altered expression is also implicated in cancer invasion and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Junctional Epidermolysis Bullosa (JEB) | Loss-of-function mutations disrupt laminin-332 assembly, impairing dermal-epidermal adhesion | ClinVar, OMIM |
| Laryngoonychocutaneous Syndrome (LOC) | Specific missense mutations in LAMA3 lead to defective laminin-332 in skin and mucosa | OMIM |
| Squamous Cell Carcinoma (SCC) | Downregulation or aberrant splicing of LAMA3 promotes tumor invasion and metastasis | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.1 | Low |
| Breast | 4.7 | Low |
| Placenta | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 18.5 | High expression |
| A549 (lung carcinoma) | 7.2 | Moderate expression |
| MCF7 (breast carcinoma) | 3.1 | Low expression |
| HEK293 (embryonic kidney) | 2.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1903C>T (p.Arg635Ter) | Nonsense | Rare in JEB | Loss of function; premature termination |
| c.1130delG (p.Gly377ValfsTer21) | Frameshift | Rare in JEB | Loss of function; truncated protein |
| c.565C>T (p.Arg189Trp) | Missense | Rare in LOC | Dominant negative effect on laminin-332 assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in LAMA3 cause junctional epidermolysis bullosa by abolishing laminin-332 production.
Gain of Function (GOF)
Not reported for LAMA3.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg189Trp) in LAMA3 can exert dominant negative effects, disrupting laminin-332 heterotrimer formation.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent (GO:0005201) | • cell adhesion (GO:0007155) |
| • basement membrane (GO:0005604) | • hemidesmosome assembly (GO:0031581) |
| • plasma membrane (GO:0005886) |
Pathways
• ECM-receptor interaction (KEGG hsa04512)
• Focal adhesion (KEGG hsa04510)
• Laminin interactions (Reactome R-HSA-3000157)
Protein Summary
Laminin subunit alpha 3 (UniProt Q16787) is a 1725-amino-acid glycoprotein that forms the alpha chain of laminin-332. It contains N-terminal, coiled-coil, and C-terminal globular domains essential for basement membrane assembly and cell adhesion via integrin binding. Proteolytic processing modulates its function in wound healing and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMA3 Knockout HEK293 Cell Line | EDJ-KQ824 | Human | 3909 | Details Get a Quote |
| LAMA3 Knockout HeLa Cell Line | EDJ-KQ18309 | Human | 3909 | Details Get a Quote |
| LAMA3 Knockout A-549 Cell Line | EDJ-KQ19582 | Human | 3909 | Details Get a Quote |
| LAMA3 Knockout HCT 116 Cell Line | EDJ-KQ19583 | Human | 3909 | Details Get a Quote |
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