LAMA3 Chromosome 18
Laminin subunit alpha 3
Upload your DNA to see your personal genotypes for variants in LAMA3.
What This Gene Does
The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
Laminin subunits
Locus Type
gene with protein product
Location
18q11.2
Ensembl
ENSG00000053747
Associated Conditions (19)
Junctional epidermolysis bullosa gravis of Herlitz
Laryngo-onycho-cutaneous syndrome
Inborn genetic diseases
LAMA3-related disorder
Epidermolysis bullosa
junctional 2A
intermediate
junctional 2B
severe
Junctional epidermolysis bullosa
non-Herlitz type
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Thyroid cancer
nonmedullary
1
Gastric cancer
Colon adenocarcinoma
Melanoma
Key Variants
RS113624323
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome, Inborn genetic diseases
Health Risk
RS115563929
Conflicting classifications of pathogenicity
LAMA3-related disorder, Inborn genetic diseases, LAMA3-related disorder
Health Risk
RS115991457
Conflicting classifications of pathogenicity
Inborn genetic diseases, LAMA3-related disorder, Inborn genetic diseases
Health Risk
RS117056996
Conflicting classifications of pathogenicity
Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz, Inborn genetic diseases
Health Risk
RS1179461242
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
Health Risk
RS138168899
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138524783
Conflicting classifications of pathogenicity
Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
Health Risk
RS138908985
Conflicting classifications of pathogenicity
Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
Health Risk
RS139190349
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139348197
Conflicting classifications of pathogenicity
Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
Health Risk
RS139393175
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome, Epidermolysis bullosa
Health Risk
RS139393524
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
Health Risk
All Variants (302)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2511375641 | Health Risk | Likely pathogenic | — |
| RS2511376274 | Health Risk | Likely pathogenic | — |
| RS2511380376 | Health Risk | Likely pathogenic | — |
| RS2511401085 | Health Risk | Likely pathogenic | — |
| RS2511406882 | Health Risk | Likely pathogenic | Epidermolysis bullosa, junctional 2A, intermediate |
| RS2511430431 | Health Risk | Likely pathogenic | — |
| RS2511440459 | Health Risk | Likely pathogenic | — |
| RS2511458400 | Health Risk | Likely pathogenic | — |
| RS2511459687 | Health Risk | Likely pathogenic | — |
| RS2511472252 | Health Risk | Likely pathogenic | LAMA3-related disorder, LAMA3-related disorder |
| RS2511543235 | Health Risk | Likely pathogenic | Junctional epidermolysis bullosa, Junctional epidermolysis bullosa |
| RS2511546700 | Health Risk | Likely pathogenic | Junctional epidermolysis bullosa, non-Herlitz type, Junctional epidermolysis bullosa |
| RS2511581197 | Health Risk | Likely pathogenic | Junctional epidermolysis bullosa, Junctional epidermolysis bullosa |
| RS2511636548 | Health Risk | Likely pathogenic | — |
| RS2511682630 | Health Risk | Likely pathogenic | — |
| RS34754160 | Health Risk | Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS534665666 | Health Risk | Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome, Epidermolysis bullosa |
| RS747547191 | Health Risk | Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS750388638 | Health Risk | Likely pathogenic | — |
| RS751684559 | Health Risk | Likely pathogenic | — |
| RS754558574 | Health Risk | Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS757381398 | Health Risk | Likely pathogenic | — |
| RS761118747 | Health Risk | Likely pathogenic | Laryngo-onycho-cutaneous syndrome, Laryngo-onycho-cutaneous syndrome |
| RS761269065 | Health Risk | Likely pathogenic | — |
| RS765104557 | Health Risk | Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS780861460 | Health Risk | Likely pathogenic | — |
| RS786204732 | Health Risk | Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS900100444 | Health Risk | Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS940016371 | Health Risk | Likely pathogenic | — |
| RS1033921573 | Health Risk | Pathogenic | — |
| RS1057516476 | Health Risk | Pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS1057516688 | Health Risk | Pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS1158043016 | Health Risk | Pathogenic | — |
| RS1158945258 | Health Risk | Pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa, Junctional epidermolysis bullosa gravis of Herlitz |
| RS1169182678 | Health Risk | Pathogenic | — |
| RS1178486820 | Health Risk | Pathogenic | — |
| RS1181742615 | Health Risk | Pathogenic | Junctional epidermolysis bullosa, non-Herlitz type, Junctional epidermolysis bullosa |
| RS1212999117 | Health Risk | Pathogenic | — |
| RS1220989716 | Health Risk | Pathogenic | — |
| RS1231716161 | Health Risk | Pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa, junctional 2B |
| RS1234435123 | Health Risk | Pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS1237688115 | Health Risk | Pathogenic | — |
| RS1239655205 | Health Risk | Pathogenic | — |
| RS1244369953 | Health Risk | Pathogenic | — |
| RS1273874335 | Health Risk | Pathogenic | — |
| RS1296034886 | Health Risk | Pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS1356353167 | Health Risk | Pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS137852757 | Health Risk | Pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa, junctional 2B |
| RS1389851824 | Health Risk | Pathogenic | — |
| RS1454998189 | Health Risk | Pathogenic | Epidermolysis bullosa, junctional 2B, severe |