LAMC3
Laminin Subunit Gamma 3
Gene Information Card
| Symbol | LAMC3 |
|---|---|
| Full Name | Laminin Subunit Gamma 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.12 |
| NCBI Gene ID | 10319 ncbi.nlm.nih.gov/gene/10319 |
| Ensembl ID | ENSG00000150556 |
| UniProt ID | Q9Y6N6 |
| OMIM ID | 604349 |
| HGNC ID | 6493 |
| Aliases | LAMN2, Laminin-12 subunit gamma, Laminin-14 subunit gamma |
Description
LAMC3 encodes the gamma-3 chain of laminin, a heterotrimeric extracellular matrix glycoprotein. Laminins are essential for basement membrane assembly, cell adhesion, migration, and differentiation. LAMC3 is highly expressed in the brain and skin. Mutations in LAMC3 cause autosomal recessive cobblestone lissencephaly with or without porencephaly and are associated with epilepsy and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cobblestone lissencephaly with or without porencephaly | Loss-of-function mutations in LAMC3 disrupt basement membrane integrity in the developing brain, leading to neuronal overmigration and cobblestone cortex. | OMIM #614115; multiple families reported |
| Epilepsy, focal, with or without intellectual disability | Biallelic LAMC3 variants impair laminin-521 function, altering synaptic organization and neuronal excitability. | ClinVar; case reports |
| Lissencephaly 9 with or without porencephaly | Homozygous or compound heterozygous LAMC3 mutations cause severe cortical malformation. | OMIM #618324 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Skin | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 4.3 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| U-87 MG (glioblastoma) | 11.0 | Medium expression |
| HaCaT (keratinocyte) | 9.5 | Medium expression |
| HEK 293 (embryonic kidney) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.268C>T (p.Arg90*) | Nonsense | Rare (gnomAD 0.0004%) | Premature truncation; loss of laminin assembly |
| c.1552G>A (p.Gly518Arg) | Missense | Rare (gnomAD 0.0002%) | Disrupts coiled-coil domain; reduced secretion |
| c.2041_2042del (p.Leu681Valfs*12) | Frameshift | Unique | Loss of C-terminal domain; null allele |
| c.3316C>T (p.Arg1106*) | Nonsense | Rare (gnomAD 0.0001%) | Truncation; no functional protein |
Mutation functional classification
Loss of Function (LOF)
Majority of reported LAMC3 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to truncated or absent gamma-3 chain and impaired basement membrane formation.
Gain of Function (GOF)
No gain-of-function mutations reported for LAMC3.
Dominant Negative (DN)
No dominant-negative mechanism described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • cell adhesion |
| • basement membrane | • integrin binding |
| • heparin binding | • extracellular space |
| • protein heterodimerization activity |
Pathways
• Laminin interactions (Reactome R-HSA-3000157)
• Extracellular matrix organization (Reactome R-HSA-1474244)
• Cell junction organization (Reactome R-HSA-446728)
Protein Summary
Laminin subunit gamma 3 (LAMC3) is a 1575-amino acid glycoprotein that assembles with alpha and beta chains to form laminin-521 (α5β2γ3) and laminin-522 (α5β2γ3). It contains an N-terminal laminin N-terminal domain, EGF-like repeats, and a C-terminal coiled-coil domain essential for trimerization. LAMC3 is critical for basement membrane integrity in the developing cerebral cortex and skin. Mutations cause cobblestone lissencephaly and epilepsy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMC3 Knockout HEK293 Cell Line | EDJ-KQ259 | Human | 10319 | Details Get a Quote |
| LAMC3 Knockout A-549 Cell Line | EDJ-KQ19606 | Human | 10319 | Details Get a Quote |
| LAMC3 Knockout HCT 116 Cell Line | EDJ-KQ19608 | Human | 10319 | Details Get a Quote |
| LAMC3 Knockout HeLa Cell Line | EDJ-KQ19609 | Human | 10319 | Details Get a Quote |
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