CHST14 Antibody – Rabbit Polyclonal

CHST14: 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. Defects in CHST14 are the cause of Ehlers-Danlos syndrome musculocontractural type (EDSMC). It is a form of Ehlers-Danlos syndrome characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement. Belongs to the sulfotransferase 2 family.

Protein type: Transferase; Membrane protein, integral; EC 2.8.2.35; Glycan Metabolism - chondroitin sulfate biosynthesis

Chromosomal Location of Human Ortholog: 15q15.1

Cellular Component: Golgi membrane; integral to membrane

Molecular Function: N-acetylgalactosamine 4-O-sulfotransferase activity; phosphate binding

Biological Process: carbohydrate biosynthetic process; dermatan sulfate biosynthetic process; dermatan sulfate proteoglycan metabolic process

Disease: Ehlers-danlos Syndrome, Musculocontractural Type 1