NANS Chromosome 9
N-acetylneuraminate synthase
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What This Gene Does
This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008]
Associated Conditions (3)
Inborn genetic diseases
Spondyloepimetaphyseal dysplasia
Genevieve type
Key Variants
RS140402727
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145067627
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS764577626
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia
Health Risk
RS2117967310
Likely pathogenic
Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia
Health Risk
RS2131619700
Likely pathogenic
Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia
Health Risk
RS2490390946
Likely pathogenic
Health Risk
RS369033671
Likely pathogenic
Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia
Health Risk
RS375797722
Likely pathogenic
Health Risk
RS745594354
Likely pathogenic
Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia
Health Risk
RS879255602
Likely pathogenic
Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia
Health Risk
RS922323466
Likely pathogenic
Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia
Health Risk
RS1459077847
Pathogenic
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140402727 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145067627 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764577626 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia |
| RS2117967310 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia |
| RS2131619700 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia |
| RS2490390946 | Health Risk | Likely pathogenic | — |
| RS369033671 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia |
| RS375797722 | Health Risk | Likely pathogenic | — |
| RS745594354 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia |
| RS879255602 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia |
| RS922323466 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia |
| RS1459077847 | Health Risk | Pathogenic | — |
| RS1828949796 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia |
| RS200709126 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia |
| RS878852980 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia |
| RS878852981 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia |
| RS878853267 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia |
| RS779218846 | Health Risk | Pathogenic/Likely pathogenic | Spondyloepimetaphyseal dysplasia, Genevieve type, Spondyloepimetaphyseal dysplasia |