B4GALT7 encodes beta-1,4-galactosyltransferase 7 (327 aa). Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts Highest expression in Pituitary (45.9 TPM) and Testis (43.9 TPM).

Ehlers-Danlos syndrome, spondylodysplastic type, 1 is caused by mutations in the B4GALT7 gene on chromosome 5.

The B4GALT7 protein participates in Defective B4GALT7 causes EDS, progeroid type, B4GALT7 transfers Gal group to xylosyl-unit of the tetrasaccharide linker, and Defective B4GALT7 does not transfer Gal to xylosyl-unit of the tetrasaccharide linker pathways.

B4GALT7 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for B4GALT7 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 6 very common features, 10 common features.

No clinical trials have been registered for Ehlers-Danlos syndrome, spondylodysplastic type, 1.

1 publication has been identified in PubMed for Ehlers-Danlos syndrome, spondylodysplastic type, 1. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Weidler S (2026). [PMID: 41316887](https://pubmed.ncbi.nlm.nih.gov/41316887/). *Angew Chem Int Ed Engl*. [Basic Science / Preclinical]