CHST3

CHST3

A gene on chromosome 10q22.1 that encodes a sulfotransferase which transfers sulfate to chondroitin, yielding chondroitin sulfate, a predominant proteoglycan of cartilage, cell surfaces and extracellular matrices. CHST3 can also transfer sulfate to keratan, another glycosaminoglycan, and to sialyl N-acetyllactosamine oligosaccharides. It may play a role in maintaining naive T cells in the spleen.
 
Molecular pathology
Defects in CHST3 are a cause of spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD).
References in periodicals archive ?
Among the DE-transcripts, COL8A2, COL12A1, COL13A1, LOC424798, LAMA2, LAMA4, LAMB4, and LAMC1 may be related to extracellular matrix formation; while CHST3, GALNTL1, NDST4, LARGE, POFUT2, RCJMB04_28l23, and MAN1A2 are all localized in the endoplasmic reticulum or Golgi apparatus, and likely mediate the processes of carbohydrate metabolism, or posttranslation glycosylation modification.
The remaining transcripts, CRYBB1, EXOC6B, LOC416916, MAN1A2 and CHST3, showed inconsistent differential expression between qRT-PCR and microarray experiments.
She had a recent diagnosis of Larsen syndrome, and was homozygous for the CHST3 gene, for which the inheritance is autosomal recessive.
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
The CHST3 gene encodes chondroitin 6-sulfotransferase 1 (EC 2.8.2.17), which catalyzes the sulfation of the 6-O position of GalNAc residues in chondroitin sulfate chains.