LTBP4 latent transforming growth factor beta binding protein 4
Gene ID: 8425, updated on 17-Jun-2024Gene type: protein coding
Also known as: ARCL1C; LTBP-4; LTBP4L; LTBP4S
- See all available tests in GTR for this gene
- Go to complete Gene record for LTBP4
- Go to Variation Viewer for LTBP4 variants
Summary
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]
Associated conditions
Genomic context
- Location:
- 19q13.2
- Sequence:
- Chromosome: 19; NC_000019.10 (40593166..40629820)
- Total number of exons:
- 35
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LTBP4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LTBP4 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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