CHST3 : carbohydrate sulfotransferase 3

Description

The CHST3 (carbohydrate sulfotransferase 3) is a protein-coding gene located on chromosome 10.

The CHST3 gene provides instructions for making an enzyme called chondroitin 6-O-sulfotransferase 1 or C6ST-1. This enzyme is crucial for the development and maintenance of the skeleton, particularly in the formation of cartilage, which is the tough, flexible tissue composing much of the skeleton during early development. Most cartilage is later transformed into bone, except for the cartilage that covers and protects the ends of bones and is present in the nose and external ears. The C6ST-1 enzyme modifies molecules called chondroitin sulfate proteoglycans, which are abundant in cartilage and give this tissue its rubbery, gel-like consistency. The C6ST-1 enzyme performs a process known as sulfation, transferring a sulfate group from a molecule called 3'-phosphoadenyl-5'-phosphosulfate (PAPS) to a specific location on chondroitin sulfate proteoglycans. Sulfation of these molecules is a critical step in cartilage formation.

The CHST3 gene encodes a sulfotransferase enzyme that uses 3'-phospho-5'-adenylyl sulfate (PAPS) as a donor to add a sulfate group to the 6th position of the N-acetylgalactosamine (GalNAc) residue of chondroitin. This sulfation process is essential for the formation of chondroitin sulfate, the major proteoglycan in cartilage, which is found on the surfaces of many cells and in extracellular matrices. The enzyme also sulfates Gal residues of keratan sulfate, another glycosaminoglycan, but with lower efficiency. Additionally, CHST3 can add sulfate groups to Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides. Research suggests that CHST3 might play a role in the maintenance of naive T-lymphocytes in the spleen.

CHST3 is also known as C6ST, C6ST1, HSD.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing