GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Gene ID: 10020, updated on 2-Nov-2024Gene type: protein coding
Also known as: NM; DMRV; IBM2; Uae1; GLCNE; THC12
- See all available tests in GTR for this gene
- Go to complete Gene record for GNE
- Go to Variation Viewer for GNE variants
Summary
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
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| GNE myopathy | See labs |
| Sialuria | See labs |
| Thrombocytopenia 12 with or without myopathy | not available |
Genomic context
- Location:
- 9p13.3
- Sequence:
- Chromosome: 9; NC_000009.12 (36214441..36276978, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GNE variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GNE homepage - Leiden Muscular Dystrophy pages
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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