NEU1 Chromosome 6
Neuraminidase 1
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What This Gene Does
The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Neuraminidases
Locus Type
gene with protein product
Location
6p21.33
Ensembl
ENSG00000204386
Associated Conditions (7)
Sialidosis type 2
Inborn genetic diseases
NEU1-related disorder
Non-immune hydrops fetalis
Sialidosis
Sialidosis type 1
Autosomal recessive NEU1-related disorders
Key Variants
RS114405905
Conflicting classifications of pathogenicity
Sialidosis type 2, Sialidosis type 2
Health Risk
RS1236387839
Conflicting classifications of pathogenicity
Health Risk
RS142833447
Conflicting classifications of pathogenicity
Sialidosis type 2, Sialidosis type 2
Health Risk
RS150864071
Conflicting classifications of pathogenicity
Sialidosis type 2, Sialidosis type 2
Health Risk
RS1762543434
Conflicting classifications of pathogenicity
Sialidosis type 2, Sialidosis type 2
Health Risk
RS201758481
Conflicting classifications of pathogenicity
Inborn genetic diseases, NEU1-related disorder, Inborn genetic diseases
Health Risk
RS41267074
Conflicting classifications of pathogenicity
Sialidosis type 2, Sialidosis type 2
Health Risk
RS550598216
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS746607723
Conflicting classifications of pathogenicity
Non-immune hydrops fetalis, Sialidosis type 2, Sialidosis type 2
Health Risk
RS750203675
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS750975716
Conflicting classifications of pathogenicity
Health Risk
RS754422982
Conflicting classifications of pathogenicity
Sialidosis type 2, Sialidosis type 2
Health Risk
All Variants (80)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS190549838 | Health Risk | Pathogenic | Sialidosis type 2, Sialidosis type 2 |
| RS2151544647 | Health Risk | Pathogenic | — |
| RS2481394317 | Health Risk | Pathogenic | — |
| RS2481394872 | Health Risk | Pathogenic | — |
| RS2481402996 | Health Risk | Pathogenic | — |
| RS2481403672 | Health Risk | Pathogenic | — |
| RS2481408384 | Health Risk | Pathogenic | — |
| RS2481409372 | Health Risk | Pathogenic | — |
| RS2481414438 | Health Risk | Pathogenic | — |
| RS534846786 | Health Risk | Pathogenic | Sialidosis, Sialidosis |
| RS754405067 | Health Risk | Pathogenic | Sialidosis, Sialidosis |
| RS756023124 | Health Risk | Pathogenic | — |
| RS759794043 | Health Risk | Pathogenic | — |
| RS767725628 | Health Risk | Pathogenic | — |
| RS768711214 | Health Risk | Pathogenic | Sialidosis, Sialidosis |
| RS769765227 | Health Risk | Pathogenic | Sialidosis, Sialidosis type 2, Sialidosis |
| RS769947055 | Health Risk | Pathogenic | — |
| RS778036088 | Health Risk | Pathogenic | — |
| RS864309513 | Health Risk | Pathogenic | Non-immune hydrops fetalis, Sialidosis type 2, Non-immune hydrops fetalis |
| RS945372017 | Health Risk | Pathogenic | Sialidosis, Sialidosis |
| RS104893977 | Health Risk | Pathogenic/Likely pathogenic | Sialidosis type 2, Autosomal recessive NEU1-related disorders, Sialidosis type 2 |
| RS104893983 | Health Risk | Pathogenic/Likely pathogenic | Sialidosis type 1, Sialidosis type 1 |
| RS1762547799 | Health Risk | Pathogenic/Likely pathogenic | Sialidosis, Sialidosis |
| RS28940583 | Health Risk | Pathogenic/Likely pathogenic | Sialidosis type 1, Sialidosis, NEU1-related disorder |
| RS398123392 | Health Risk | Pathogenic/Likely pathogenic | Sialidosis, Sialidosis type 2, Sialidosis |
| RS747097352 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS749996046 | Health Risk | Pathogenic/Likely pathogenic | Sialidosis, Sialidosis |
| RS761724054 | Health Risk | Pathogenic/Likely pathogenic | Sialidosis type 2, Sialidosis type 2 |
| RS762400331 | Health Risk | Pathogenic/Likely pathogenic | Sialidosis, Sialidosis |
| RS768958770 | Health Risk | Pathogenic/Likely pathogenic | Sialidosis, Sialidosis |