LTBP3 Chromosome 11
Latent transforming growth factor beta binding protein 3
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What This Gene Does
The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Latent transforming growth factor beta binding proteins
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000168056
Associated Conditions (9)
Inborn genetic diseases
Brachyolmia-amelogenesis imperfecta syndrome
Geleophysic dysplasia 3
LTBP3-related disorder
Intellectual disability
Amelogenesis imperfecta
Gastric cancer
Heritable Thoracic Aortic Disease
Geleophysic dysplasia 1
Key Variants
RS1054389826
Conflicting classifications of pathogenicity
Inborn genetic diseases, Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases
Health Risk
RS1335908921
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140268486
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Geleophysic dysplasia 3, Brachyolmia-amelogenesis imperfecta syndrome
Health Risk
RS145001056
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
Health Risk
RS200693646
Conflicting classifications of pathogenicity
Inborn genetic diseases, LTBP3-related disorder, Brachyolmia-amelogenesis imperfecta syndrome
Health Risk
RS201987018
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
Health Risk
RS2135114515
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
Health Risk
RS28403592
Conflicting classifications of pathogenicity
Geleophysic dysplasia 3, Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases
Health Risk
RS370306373
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases, Intellectual disability
Health Risk
RS376337792
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases, LTBP3-related disorder
Health Risk
RS377496105
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases, Brachyolmia-amelogenesis imperfecta syndrome
Health Risk
RS527555537
Conflicting classifications of pathogenicity
Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases, LTBP3-related disorder
Health Risk
All Variants (80)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2135141843 | Health Risk | Pathogenic | Geleophysic dysplasia 3, Geleophysic dysplasia 3 |
| RS2135143557 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2135155640 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2135157363 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2135159627 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2496113002 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2496113290 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2496114380 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2496118747 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2496128459 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2496130187 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2496138297 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2496147524 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2496149640 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2496149719 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2496154682 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2496165386 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2496166673 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2496168975 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS2496178103 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS752375653 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS767708438 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS796052116 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS875989822 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS875989824 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS878853262 | Health Risk | Pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS1554973844 | Health Risk | Pathogenic; confers sensitivity | Brachyolmia-amelogenesis imperfecta syndrome, Heritable Thoracic Aortic Disease, Brachyolmia-amelogenesis imperfecta syndrome |
| RS1265250025 | Health Risk | Pathogenic/Likely pathogenic | Geleophysic dysplasia 1, Geleophysic dysplasia 1 |
| RS1463397648 | Health Risk | Pathogenic/Likely pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, LTBP3-related disorder, Brachyolmia-amelogenesis imperfecta syndrome |
| RS878853036 | Health Risk | Pathogenic/Likely pathogenic | Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |