GNE wt Allele - CISMeF

Preferred Label : GNE wt Allele;

NCIt synonyms : DMRV; GLCNE; Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase wt Allele; Uae1; IBM2; NM;

NCIt definition : Human GNE wild-type allele is located in the vicinity of 9p13.3 and is approximately 63 kb in length. This allele, which encodes bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase protein, plays a role in the rate limiting step of the synthesis of precursors used in the sialic acid modification of proteins and lipids. Mutation of the gene is associated with both Nonaka myopathy and sialuria.;

GenBank Accession Number : AF051852;

Details

Origin ID

C201699;

OMIM relation
- Udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Amino and Nucleotide Sugars Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Post-Translational Modification [NCIt concept]

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