B3GALT6 encodes beta-1,3-galactosyltransferase 6 (329 aa). Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Highest expression in Cells Cultured fibroblasts (29.9 TPM) and Uterus (23.1 TPM).

Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures is associated with mutations in the B3GALT6 gene on chromosome 1.

The B3GALT6 protein participates in B3GALT6 R197Afs*81 and Defective B3GALT6 causes EDSP2 and SEMDJL1 pathways.

B3GALT6 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for B3GALT6 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 10 always present features, 3 very common features, 15 common features.

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

No clinical trials have been registered for spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.

202 publications have been identified in PubMed for spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures. Kisho has analyzed 45 by research type. Research spans Review / Meta-Analysis (58%), Epidemiology / Natural History (18%), and Basic Science / Preclinical (13%).

Recent Publications

• Bläsius FM (2026). [PMID: 41603952](https://pubmed.ncbi.nlm.nih.gov/41603952/). *Unfallchirurgie (Heidelb)*. [Review / Meta-Analysis]

• Swanson CM (2026). [PMID: 42128970](https://pubmed.ncbi.nlm.nih.gov/42128970/). *Curr Osteoporos Rep*. [Review / Meta-Analysis]

• Liu X (2026). [PMID: 40073972](https://pubmed.ncbi.nlm.nih.gov/40073972/). *J Adv Res*. [Basic Science / Preclinical]

• Lu KH (2026). [PMID: 41484973](https://pubmed.ncbi.nlm.nih.gov/41484973/). *Biol Sex Differ*. [Epidemiology / Natural History]

• Rosen V (2026). [PMID: 41505561](https://pubmed.ncbi.nlm.nih.gov/41505561/). *Science*. [Other]

• Maddaloni E (2025). [PMID: 40154887](https://pubmed.ncbi.nlm.nih.gov/40154887/). *Diabetes Res Clin Pract*. [Clinical Trial Publication]

• Whittier DE (2025). [PMID: 40118761](https://pubmed.ncbi.nlm.nih.gov/40118761/). *J Bone Miner Res*. [Basic Science / Preclinical]

• Gallo Afflitto G (2025). [PMID: 40748268](https://pubmed.ncbi.nlm.nih.gov/40748268/). *J Glaucoma*. [Review / Meta-Analysis]

• Vendrami C (2025). [PMID: 40464199](https://pubmed.ncbi.nlm.nih.gov/40464199/). *J Cachexia Sarcopenia Muscle*. [Epidemiology / Natural History]

• Swords M (2025). [PMID: 39894610](https://pubmed.ncbi.nlm.nih.gov/39894610/). *Foot Ankle Clin*. [Review / Meta-Analysis]