LAMA2 Gene: Laminin Subunit Alpha 2
Essential for Muscle and Nerve Basement Membrane Integrity
Gene Information Card
| Symbol | LAMA2 |
|---|---|
| Full Name | Laminin Subunit Alpha 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q22.33 |
| NCBI Gene ID | 3908 ncbi.nlm.nih.gov/gene/3908 |
| Ensembl ID | ENSG00000196569 |
| UniProt ID | P24043 |
| OMIM ID | 156225 |
| HGNC ID | 6482 |
| Aliases | LAMM, merosin heavy chain, laminin M chain |
Description
The LAMA2 gene encodes the alpha-2 chain of laminin, a major component of the basement membrane. Laminin alpha 2 (also known as merosin) is critical for the structural integrity of skeletal muscle and peripheral nerve. Mutations in LAMA2 cause congenital muscular dystrophy type 1A (MDC1A), characterized by severe muscle weakness, hypotonia, and white matter abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital muscular dystrophy type 1A (MDC1A) | Loss-of-function mutations in LAMA2 disrupt laminin-211/221 assembly, weakening the muscle basement membrane and leading to muscle fiber degeneration. | ClinVar, OMIM |
| LAMA2-related limb-girdle muscular dystrophy (LGMDR23) | Partial deficiency or hypomorphic alleles of LAMA2 cause a milder, later-onset form of muscular dystrophy. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 42.3 | High |
| Heart | 18.7 | Medium |
| Peripheral nerve | 15.2 | Medium |
| Placenta | 12.1 | Medium |
| Brain | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 35.6 | High expression in differentiated myotubes |
| Cardiomyocytes | 22.4 | Moderate expression |
| Schwann cells | 18.9 | Key for peripheral nerve myelination |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2049_2050delAG | Frameshift | Rare | Loss of function; truncation of laminin alpha 2 |
| c.7432C>T (p.Arg2478Ter) | Nonsense | Rare | Premature stop; complete loss of protein |
| c.2461A>G (p.Thr821Ala) | Missense | Rare | Impaired laminin assembly and secretion |
Mutation functional classification
Loss of Function (LOF)
Most common mechanism; nonsense, frameshift, and splice-site mutations lead to complete or partial deficiency of laminin alpha 2, causing MDC1A.
Gain of Function (GOF)
Not reported for LAMA2.
Dominant Negative (DN)
Not reported; LAMA2 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Laminin interactions (Reactome: R-HSA-3000157)
• Integrin cell surface interactions (Reactome: R-HSA-216083)
Protein Summary
Laminin subunit alpha 2 (390 kDa) is a secreted glycoprotein that assembles with beta-1 and gamma-1 chains to form laminin-211 (merosin). It is a key component of the basement membrane in skeletal muscle, heart, and peripheral nerve. The protein binds to integrins and dystroglycan, anchoring the extracellular matrix to the cell surface and providing mechanical stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMA2 Knockout HEK293 Cell Line | EDJ-KQ823 | Human | 3908 | Details Get a Quote |
| LAMA2 Knockout A-549 Cell Line | EDJ-KQ19580 | Human | 3908 | Details Get a Quote |
| LAMA2 Knockout HCT 116 Cell Line | EDJ-KQ19581 | Human | 3908 | Details Get a Quote |
| LAMA2 Knockout HeLa Cell Line | EDJ-KQ53775 | Human | 3908 | Details Get a Quote |
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