GNE Chromosome 9
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
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What This Gene Does
The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Associated Conditions (12)
Sialuria
GNE myopathy
GNE-related disorder
Thrombocytopenia 12 with or without myopathy
Inborn genetic diseases
Malignant tumor of urinary bladder
Thrombocytopenia
Lung cancer
Hereditary nonpolyposis colon cancer
Myopathy
autophagic vacuolar
infantile-onset
Key Variants
RS1022557448
Conflicting classifications of pathogenicity
Sialuria, GNE myopathy, Sialuria
Health Risk
RS112824871
Conflicting classifications of pathogenicity
Sialuria, GNE myopathy, Sialuria
Health Risk
RS1173945551
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE myopathy
Health Risk
RS121908625
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE myopathy
Health Risk
RS121908627
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE-related disorder
Health Risk
RS121908630
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE myopathy
Health Risk
RS1258671706
Conflicting classifications of pathogenicity
Sialuria, GNE myopathy, Sialuria
Health Risk
RS138694766
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE-related disorder
Health Risk
RS139442869
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE myopathy
Health Risk
RS1401082365
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, Thrombocytopenia 12 with or without myopathy
Health Risk
RS141172610
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE myopathy
Health Risk
RS141814943
Conflicting classifications of pathogenicity
GNE myopathy, Sialuria, GNE-related disorder
Health Risk
All Variants (243)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554664043 | Health Risk | Pathogenic | — |
| RS1554664064 | Health Risk | Pathogenic | Sialuria, GNE myopathy, Sialuria |
| RS1554664095 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS1563930168 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS1828502810 | Health Risk | Pathogenic | — |
| RS1828665576 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS1829025291 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS1829026390 | Health Risk | Pathogenic | Sialuria, GNE myopathy, Sialuria |
| RS1829284063 | Health Risk | Pathogenic | — |
| RS1829869628 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS200643106 | Health Risk | Pathogenic | Sialuria, GNE myopathy, Sialuria |
| RS2132993345 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS2133005844 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS2133006228 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS2133007032 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS2133041569 | Health Risk | Pathogenic | Sialuria, GNE myopathy, Sialuria |
| RS2133042191 | Health Risk | Pathogenic | Sialuria, GNE myopathy, Sialuria |
| RS2133049724 | Health Risk | Pathogenic | Sialuria, GNE myopathy, Sialuria |
| RS2133068002 | Health Risk | Pathogenic | Sialuria, GNE myopathy, Sialuria |
| RS2133078032 | Health Risk | Pathogenic | Sialuria, GNE myopathy, Sialuria |
| RS2133111012 | Health Risk | Pathogenic | Sialuria, GNE myopathy, Sialuria |
| RS2133113896 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS2133114222 | Health Risk | Pathogenic | Sialuria, GNE myopathy, Sialuria |
| RS2133126724 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS2489580480 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS2489583729 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS2489584080 | Health Risk | Pathogenic | Sialuria, GNE myopathy, Sialuria |
| RS2489590578 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS2489590641 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS2489663928 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS2489716716 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS2489717259 | Health Risk | Pathogenic | — |
| RS2489717760 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS2489733992 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS2489786273 | Health Risk | Pathogenic | Sialuria, GNE myopathy, Sialuria |
| RS2489811827 | Health Risk | Pathogenic | — |
| RS2489933518 | Health Risk | Pathogenic | Sialuria, GNE myopathy, Sialuria |
| RS28937594 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE-related disorder |
| RS372872777 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS62541771 | Health Risk | Pathogenic | GNE myopathy, Sialuria, Hereditary nonpolyposis colon cancer |
| RS724159957 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS745517517 | Health Risk | Pathogenic | GNE myopathy, Sialuria, Thrombocytopenia 12 with or without myopathy |
| RS747199032 | Health Risk | Pathogenic | GNE myopathy, Sialuria, Thrombocytopenia 12 with or without myopathy |
| RS748949603 | Health Risk | Pathogenic | GNE myopathy, Sialuria, Thrombocytopenia 12 with or without myopathy |
| RS755188930 | Health Risk | Pathogenic | — |
| RS757523840 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS775446242 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS786204558 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS982936794 | Health Risk | Pathogenic | GNE myopathy, Sialuria, GNE myopathy |
| RS1057516746 | Health Risk | Pathogenic/Likely pathogenic | GNE myopathy, Sialuria, Thrombocytopenia 12 with or without myopathy |