N-Deacetylase/N-Sulfotransferase 1

Alternative Names

NDST1
Heparan Glucosaminyl N-Deacetylase/N-Sulfotransferase 1
Heparan Sulfate N-Deacetylase/N-Sulfotransferase
HSST

Length

60,433 bases

No. of Exons

No. of isoforms

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

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001543.5:c.985C>T	Saudi Arabia	NC_000005.10:g.150528275C>T	Uncertain Significance	Uncertain Significance	Intellectual Developmental Disorder, Autosomal Recessive 46	NG_041806.1:g.35498C>T; NM_001543.5:c.985C>T; NP_001534.1:p.Arg329Cys		3064174

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=NDST1

Contributors

Asha Deepthi: 17.10.2024

Edit History

Asha Deepthi: 17.10.2024

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