background:
This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the SLC4 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]
Function:
Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Transfers sulfate to the SLC4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the SLC3 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.
Subcellular Location:
Golgi apparatus membrane.
Tissue Specificity:
Widely expressed. Expressed at high level in pituitary gland, placenta, uterus and thyroid.
DISEASE:
Defects in CHST14 are the cause of Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776]. 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.
Similarity:
Belongs to the sulfotransferase 2 family.
Database links:
Entrez Gene: 113189 Human
Entrez Gene: 72136 Mouse
Omim: 608429 Human
SwissProt: Q8NCH0 Human
SwissProt: Q80V53 Mouse
Unigene: 442449 Human
Unigene: 278349 Mouse
Unigene: 48484 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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