LTBP4 Chromosome 19
Latent transforming growth factor beta binding protein 4
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What This Gene Does
The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Gene Info
Gene Group
Latent transforming growth factor beta binding proteins
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000090006
Associated Conditions (9)
Cutis laxa with severe pulmonary
gastrointestinal and urinary anomalies
LTBP4-related disorder
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Nonpapillary renal cell carcinoma
Gastric cancer
Malignant tumor of esophagus
Cutis laxa
Key Variants
RS1015435132
Conflicting classifications of pathogenicity
Health Risk
RS114749335
Conflicting classifications of pathogenicity
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, LTBP4-related disorder
Health Risk
RS1213927843
Conflicting classifications of pathogenicity
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Cutis laxa with severe pulmonary
Health Risk
RS1220133830
Conflicting classifications of pathogenicity
Health Risk
RS187093021
Conflicting classifications of pathogenicity
LTBP4-related disorder, LTBP4-related disorder
Health Risk
RS199678003
Conflicting classifications of pathogenicity
Health Risk
RS199887429
Conflicting classifications of pathogenicity
Health Risk
RS199990200
Conflicting classifications of pathogenicity
Health Risk
RS200036888
Conflicting classifications of pathogenicity
Health Risk
RS200338042
Conflicting classifications of pathogenicity
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Inborn genetic diseases
Health Risk
RS200667255
Conflicting classifications of pathogenicity
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, LTBP4-related disorder
Health Risk
RS200914063
Conflicting classifications of pathogenicity
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, LTBP4-related disorder
Health Risk
All Variants (79)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS970983655 | Health Risk | Likely pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, LTBP4-related disorder |
| RS1286740150 | Health Risk | Pathogenic | LTBP4-related disorder, LTBP4-related disorder |
| RS1307726290 | Health Risk | Pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Cutis laxa with severe pulmonary |
| RS1321935316 | Health Risk | Pathogenic | — |
| RS1361568839 | Health Risk | Pathogenic | — |
| RS1377226312 | Health Risk | Pathogenic | — |
| RS1382026467 | Health Risk | Pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Cutis laxa with severe pulmonary |
| RS1475578735 | Health Risk | Pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Cutis laxa with severe pulmonary |
| RS1555744253 | Health Risk | Pathogenic | — |
| RS1568406407 | Health Risk | Pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Cutis laxa with severe pulmonary |
| RS2081638052 | Health Risk | Pathogenic | — |
| RS2146021496 | Health Risk | Pathogenic | — |
| RS2471215714 | Health Risk | Pathogenic | — |
| RS2515347595 | Health Risk | Pathogenic | — |
| RS2515360712 | Health Risk | Pathogenic | — |
| RS2515374018 | Health Risk | Pathogenic | — |
| RS2515384166 | Health Risk | Pathogenic | — |
| RS267607228 | Health Risk | Pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Cutis laxa with severe pulmonary |
| RS267607229 | Health Risk | Pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Cutis laxa with severe pulmonary |
| RS397515430 | Health Risk | Pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Cutis laxa with severe pulmonary |
| RS606231159 | Health Risk | Pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Cutis laxa with severe pulmonary |
| RS606231160 | Health Risk | Pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Cutis laxa with severe pulmonary |
| RS754757253 | Health Risk | Pathogenic | — |
| RS758640982 | Health Risk | Pathogenic | — |
| RS781735457 | Health Risk | Pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Cutis laxa with severe pulmonary |
| RS797044471 | Health Risk | Pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Cutis laxa with severe pulmonary |
| RS2146029786 | Health Risk | Pathogenic/Likely pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Cutis laxa with severe pulmonary |
| RS606231161 | Health Risk | Pathogenic/Likely pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Cutis laxa with severe pulmonary |
| RS747013505 | Health Risk | Pathogenic/Likely pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Cutis laxa with severe pulmonary |