LTBP3 encodes latent transforming growth factor beta binding protein 3 (1,303 aa). Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Highest expression in Artery Aorta (369.7 TPM) and Artery Tibial (212.2 TPM).

Brachyolmia-amelogenesis imperfecta syndrome is associated with mutations in the LTBP3 gene on chromosome 11.

The LTBP3 protein participates in LTBP1, LTBP3 bind TGF-Beta pathway.

LTBP3 is classified as a druggable target (Druggable Genome category) with score 0.0.

Genetic testing for LTBP3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for brachyolmia-amelogenesis imperfecta syndrome has been reported in the published literature.

Phenotype severity distribution: 2 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for brachyolmia-amelogenesis imperfecta syndrome.

113 publications have been identified in PubMed for brachyolmia-amelogenesis imperfecta syndrome. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (19%).

Recent Publications

• Au CW (2026). [PMID: 41174912](https://pubmed.ncbi.nlm.nih.gov/41174912/). *American journal of medical genetics. Part A*. [Case Report / Case Series]

• Nelwan DA (2026). [PMID: 41717638](https://pubmed.ncbi.nlm.nih.gov/41717638/). *Radiol Case Rep*. [Case Report / Case Series]

• Doğan Arı AB (2026). [PMID: 41937885](https://pubmed.ncbi.nlm.nih.gov/41937885/). *Mol Syndromol*. [Basic Science / Preclinical]

• Mokhtar IW (2026). [PMID: 41240634](https://pubmed.ncbi.nlm.nih.gov/41240634/). *Archives of oral biology*. [Review / Meta-Analysis]

• Sriudomporn K (2026). [PMID: 41699528](https://pubmed.ncbi.nlm.nih.gov/41699528/). *BMC pregnancy and childbirth*. [Case Report / Case Series]

• Rattanapornsompong K (2026). [PMID: 41876952](https://pubmed.ncbi.nlm.nih.gov/41876952/). *Oral diseases*. [Diagnostic / Biomarker]

• Ullah S (2026). [PMID: 40108106](https://pubmed.ncbi.nlm.nih.gov/40108106/). *Biochemical genetics*. [Basic Science / Preclinical]

• Theunis M (2026). [PMID: 41126390](https://pubmed.ncbi.nlm.nih.gov/41126390/). *Ophthalmic genetics*. [Review / Meta-Analysis]

• Legrand MA (2026). [PMID: 41612382](https://pubmed.ncbi.nlm.nih.gov/41612382/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

• Sriwattanapong K (2026). [PMID: 40693438](https://pubmed.ncbi.nlm.nih.gov/40693438/). *Cell proliferation*. [Basic Science / Preclinical]