NDST1 Chromosome 5
N-deacetylase and N-sulfotransferase 1
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What This Gene Does
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. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
Sulfotransferases, membrane bound
Locus Type
gene with protein product
Location
5q33.1
Ensembl
ENSG00000070614
Associated Conditions (6)
Inborn genetic diseases
Intellectual disability
autosomal recessive 46
NDST1-related disorder
Global developmental delay
See cases
Key Variants
RS145390254
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal recessive 46
Health Risk
RS146548363
Conflicting classifications of pathogenicity
Health Risk
RS186262357
Conflicting classifications of pathogenicity
Health Risk
RS200616920
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal recessive 46
Health Risk
RS528143978
Conflicting classifications of pathogenicity
Intellectual disability, NDST1-related disorder, Intellectual disability
Health Risk
RS762510239
Conflicting classifications of pathogenicity
Health Risk
RS606231458
Likely pathogenic
Intellectual disability, autosomal recessive 46, Intellectual disability
Health Risk
RS606231456
Pathogenic
Intellectual disability, autosomal recessive 46, Intellectual disability
Health Risk
RS606231457
Pathogenic
Intellectual disability, autosomal recessive 46, Intellectual disability
Health Risk
RS606231459
Pathogenic/Likely pathogenic
Intellectual disability, autosomal recessive 46, Global developmental delay
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145390254 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, autosomal recessive 46 |
| RS146548363 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS186262357 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200616920 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, autosomal recessive 46 |
| RS528143978 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, NDST1-related disorder, Intellectual disability |
| RS762510239 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS606231458 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 46, Intellectual disability |
| RS606231456 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 46, Intellectual disability |
| RS606231457 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 46, Intellectual disability |
| RS606231459 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 46, Global developmental delay |