Dermatan-4-sulfotransferase-1

Dermatan-4-sulfotransferase-1 (D4ST1) is an enzyme that in humans is encoded by the CHST14 gene. This enzyme is involved in the biosynthesis of dermatan sulfate, a type of glycosaminoglycan (GAG) that plays a crucial role in various biological processes, including cell adhesion, cell proliferation, and cell migration.

Function

D4ST1 is responsible for the transfer of sulfate groups to the 4-position of N-acetylgalactosamine (GalNAc) residues in dermatan sulfate. This sulfation process is essential for the formation of iduronic acid, a key component of dermatan sulfate that contributes to its unique physical and biological properties.

Clinical significance

Mutations in the CHST14 gene that encodes D4ST1 can lead to a rare genetic disorder known as Ehlers-Danlos syndrome, musculocontractural type 1 (MCEDS1). This condition is characterized by multiple congenital malformations and progressive multisystem fragility-related manifestations.

See also

• Sulfotransferase
• Ehlers-Danlos syndrome
• Glycosaminoglycan

External links

• GeneReviews/NCBI/NIH/UW entry on Ehlers-Danlos Syndrome, Musculocontractural Type 1

This article incorporates text from the United States National Library of Medicine, which is in the public domain.