Carbohydrate (Chondroitin 6) Sulfotransferase 3 (CHST3) Antibody – Rabbit Polyclonal

This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]

CHST3: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N- acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of naive T-lymphocytes in the spleen. Defects in CHST3 are a cause of spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD). A bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood. Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily.

Protein type: Glycan Metabolism - chondroitin sulfate biosynthesis; Transferase; EC 2.8.2.17; Membrane protein, integral

Chromosomal Location of Human Ortholog: 10q22.1

Cellular Component: Golgi membrane; integral to membrane

Molecular Function: chondroitin 6-sulfotransferase activity; sulfotransferase activity; proteoglycan sulfotransferase activity

Biological Process: chondroitin sulfate metabolic process; sulfur metabolic process; chondroitin sulfate biosynthetic process; glycosaminoglycan metabolic process; carbohydrate metabolic process; T cell homeostasis; pathogenesis

Disease: Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations; Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, And Congenital Heart Defects