LTBP3 latent transforming growth factor beta binding protein 3
Gene ID: 4054, updated on 11-Apr-2024Gene type: protein coding
Also known as: DASS; LTBP2; LTBP-3; STHAG6; pp6425; GPHYSD3
- See all available tests in GTR for this gene
- Go to complete Gene record for LTBP3
- Go to Variation Viewer for LTBP3 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Brachyolmia-amelogenesis imperfecta syndrome | See labs |
| Geleophysic dysplasia 3 | See labs |
| Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. GeneReviews: Not available | |
| Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. GeneReviews: Not available | |
| Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. GeneReviews: Not available |
Genomic context
- Location:
- 11q13.1
- Sequence:
- Chromosome: 11; NC_000011.10 (65538559..65558359, complement)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LTBP3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LTBP3 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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