N-Deacetylase/N-Sulfotransferase 1

Alternative Names

  • NDST1
  • Heparan Glucosaminyl N-Deacetylase/N-Sulfotransferase 1
  • Heparan Sulfate N-Deacetylase/N-Sulfotransferase
  • HSST
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OMIM Number

600853

NCBI Gene ID

3340

Uniprot ID

P52848

Length

60,433 bases

No. of Exons

16

No. of isoforms

3

Protein Name

Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1

Molecular Mass

100868 Da

Amino Acid Count

882

Genomic Location

chr5:150,497,779-150,558,211

Gene Map Locus
5q33.1

Description

This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. The encoded protein catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001543.5:c.985C>TSaudi ArabiaNC_000005.10:g.150528275C>TUncertain SignificanceLikely Pathogenic, Uncertain SignificanceIntellectual Developmental Disorder, Autosomal Recessive 46NG_041806.1:g.35498C>T; NM_001543.5:c.985C>T; NP_001534.1:p.Arg329Cys3064174
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