CHST14 gene

carbohydrate sulfotransferase 14

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ehlers-Danlos syndrome, musculocontractural type

From UniProt:

Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1): 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. [MIM:601776]

Cytogenetic Location: 15q15.1, which is the long (q) arm of chromosome 15 at position 15.1

Molecular Location: base pairs 40,470,961 to 40,473,158 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q15.1, which is the long (q) arm of chromosome 15 at position 15.1
  • ATCS
  • D4ST1
  • EDSMC1
  • HNK1ST