Carbohydrate Sulfotransferase 14

Alternative Names

  • CHST14
  • Dermatan-4-Sulfotransferase 1
  • D4ST1
  • N-Acetylgalactosamine 4-0 Sulfotransferase
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OMIM Number

608429

NCBI Gene ID

113189

Uniprot ID

Q8NCH0

Length

2,175 bases

No. of Exons

1

No. of isoforms

1

Protein Name

Carbohydrate sulfotransferase 14

Molecular Mass

42997 Da

Amino Acid Count

376

Genomic Location

chr15:40,470,983-40,473,157

Gene Map Locus
15q15.1

Description

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.[From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_130468.4:c.54_78delSaudi ArabiaNC_000015.10:g.40471267_40471291delPathogenicEhlers-Danlos Syndrome, Musculocontractural Type, 1NG_017074.1:g.5307_5331del; NM_130468.4:c.54_78del; NP_569735.1:p.Gly19TrpfsTer19
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