Aliases for CHST14 Gene
External Ids for CHST14 Gene
Previous HGNC Symbols for CHST14 Gene
Previous GeneCards Identifiers for CHST14 Gene
This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]
GeneCards Summary for CHST14 Gene
CHST14 (Carbohydrate Sulfotransferase 14) is a Protein Coding gene. Diseases associated with CHST14 include Ehlers-Danlos Syndrome, Musculocontractural Type 1 and Ehlers-Danlos Syndrome, Musculocontractural Type. Among its related pathways are Defective B4GALT7 causes EDS, progeroid type and Metabolism. GO annotations related to this gene include sulfotransferase activity and N-acetylgalactosamine 4-O-sulfotransferase activity. An important paralog of this gene is CHST13.
UniProtKB/Swiss-Prot for CHST14 Gene
Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. GlcUA to IdoUA. Appears to have an important role in the formation of the cerbellar neural network during postnatal brain development.