LAMB3 Chromosome 1
Laminin subunit beta 3
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What This Gene Does
The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Laminin subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1q32.2
Ensembl
ENSG00000196878
Associated Conditions (12)
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa
non-Herlitz type
LAMB3-related disorder
Inborn genetic diseases
Amelogenesis imperfecta type 1A
Uterine corpus endometrial carcinoma
Abnormality of the skin
Epidermolysis bullosa
Amelogenesis imperfecta
Epidermolysis bullosa simplex 1A
generalized severe
Key Variants
RS1007125449
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa, non-Herlitz type
Health Risk
RS1033335294
Conflicting classifications of pathogenicity
Health Risk
RS113745536
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, LAMB3-related disorder, Junctional epidermolysis bullosa
Health Risk
RS114274965
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS114404740
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
Health Risk
RS114875539
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa, non-Herlitz type
Health Risk
RS115431256
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
Health Risk
RS116124880
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
Health Risk
RS116218572
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS12091253
Conflicting classifications of pathogenicity
LAMB3-related disorder, Inborn genetic diseases, LAMB3-related disorder
Health Risk
RS121912486
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, non-Herlitz type, Junctional epidermolysis bullosa gravis of Herlitz
Health Risk
RS138710333
Conflicting classifications of pathogenicity
Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
Health Risk
All Variants (315)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1666824858 | Health Risk | Pathogenic/Likely pathogenic | Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa |
| RS2102438650 | Health Risk | Pathogenic/Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS2464753059 | Health Risk | Pathogenic/Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa |
| RS2464831946 | Health Risk | Pathogenic/Likely pathogenic | Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa |
| RS369131781 | Health Risk | Pathogenic/Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa |
| RS532875477 | Health Risk | Pathogenic/Likely pathogenic | Junctional epidermolysis bullosa, Junctional epidermolysis bullosa |
| RS747916314 | Health Risk | Pathogenic/Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa, non-Herlitz type |
| RS757145297 | Health Risk | Pathogenic/Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS759084687 | Health Risk | Pathogenic/Likely pathogenic | Junctional epidermolysis bullosa, Junctional epidermolysis bullosa |
| RS768303931 | Health Risk | Pathogenic/Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa, Junctional epidermolysis bullosa gravis of Herlitz |
| RS769967565 | Health Risk | Pathogenic/Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa, non-Herlitz type |
| RS770302956 | Health Risk | Pathogenic/Likely pathogenic | Junctional epidermolysis bullosa, Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa gravis of Herlitz |
| RS776537364 | Health Risk | Pathogenic/Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa |
| RS779681550 | Health Risk | Pathogenic/Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz |
| RS80356681 | Health Risk | Pathogenic/Likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa, Amelogenesis imperfecta type 1A |