LAMA4 Gene: Laminin Subunit Alpha 4
Essential component of basement membranes, implicated in cardiomyopathy and cancer
Gene Information Card
| Symbol | LAMA4 |
|---|---|
| Full Name | laminin subunit alpha 4 |
| Gene Type | protein coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 3910 ncbi.nlm.nih.gov/gene/3910 |
| Ensembl ID | ENSG00000112769 |
| UniProt ID | Q16363 |
| OMIM ID | 600133 |
| HGNC ID | 6484 |
| Aliases | LAMA4, LAMA4*-1, LAMA4*-2, LAMA4*-3 |
Description
LAMA4 encodes the alpha 4 chain of laminin, a major component of basement membranes. Laminins are heterotrimeric glycoproteins composed of alpha, beta, and gamma chains. The alpha 4 chain is widely expressed in various tissues and plays a critical role in cell adhesion, migration, differentiation, and tissue integrity. Mutations in LAMA4 are associated with dilated cardiomyopathy and have been implicated in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy 1JJ | Loss-of-function mutations disrupt basement membrane integrity in cardiac muscle, leading to impaired contractility and dilation. | ClinVar, OMIM |
| Cancer (various types) | Altered LAMA4 expression affects tumor cell adhesion and invasion; overexpression linked to poor prognosis in some cancers. | COSMIC, NCBI PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.7 | Low |
| Placenta | 15.2 | Medium |
| Skeletal muscle | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 18.9 | High expression in vascular endothelial cells |
| HeLa (cervical cancer) | 7.2 | Moderate expression |
| A549 (lung cancer) | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1135C>T (p.Arg379*) | Nonsense | Rare | Loss of function; associated with dilated cardiomyopathy |
| c.1522G>A (p.Gly508Arg) | Missense | Rare | Likely pathogenic; disrupts laminin assembly |
| c.2041_2042insA (p.Thr681Asnfs*2) | Frameshift | Rare | Loss of function; reported in cardiomyopathy |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent alpha 4 chain, impairing basement membrane structure.
Gain of Function (GOF)
Not reported for LAMA4.
Dominant Negative (DN)
Missense mutations may interfere with heterotrimer assembly, exerting dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent (GO:0005201) | • cell adhesion (GO:0007155) |
| • basement membrane (GO:0005604) | • extracellular region (GO:0005576) |
| • 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 4 is a 182 kDa glycoprotein that assembles with beta and gamma chains to form laminin-8 (alpha4beta1gamma1) and laminin-9 (alpha4beta2gamma1). It is predominantly expressed in basement membranes of blood vessels, muscle, and epithelial tissues. The protein mediates cell-matrix adhesion via integrin binding and influences cell migration and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMA4 Knockout HEK293 Cell Line | EDJ-KQ825 | Human | 3910 | Details Get a Quote |
| LAMA4 Knockout A-549 Cell Line | EDJ-KQ19585 | Human | 3910 | Details Get a Quote |
| LAMA4 Knockout HCT 116 Cell Line | EDJ-KQ19586 | Human | 3910 | Details Get a Quote |
| LAMA4 Knockout HeLa Cell Line | EDJ-KQ19587 | Human | 3910 | Details Get a Quote |
