Gene: NDST1

Alternate names for this Gene: HSST|MRT46|NST1

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q33.1

Description of this Gene: N-deacetylase and N-sulfotransferase 1

Type of Gene: protein-coding

rs606231456 in NDST1 gene and MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 PMID 25125150 2014 NDST1 missense mutations in autosomal recessive intellectual disability.

rs2545342 in NDST1 gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

rs2545339 in NDST1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17726577 in NDST1 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3846706 in NDST1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.