Protein Variants | Comment | Organism |
---|---|---|
additional information | naturally occurring mutations in patients with hereditary inclusion body myopathy, mutations G135V, V216A, R246W, A631V, and M217T identified, mutations severely affect both activities of the bifunctional enzyme | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + N-acyl-D-mannosamine | Homo sapiens | key and rate limiting enzyme in the synthesis of N-acetylneuraminic acid and therefore of nearly all other sialic acids, enzyme mutations can cause hereditary inclusion body myopathy | ADP + N-acyl-D-mannosamine 6-phosphate | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
patients with hereditary inclusion body myopathy | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | cultured cells | Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + N-acyl-D-mannosamine | - |
Homo sapiens | ADP + N-acyl-D-mannosamine 6-phosphate | - |
? | |
ATP + N-acyl-D-mannosamine | key and rate limiting enzyme in the synthesis of N-acetylneuraminic acid and therefore of nearly all other sialic acids, enzyme mutations can cause hereditary inclusion body myopathy | Homo sapiens | ADP + N-acyl-D-mannosamine 6-phosphate | - |
? |
Synonyms | Comment | Organism |
---|---|---|
UDP-GlcNAc 2-epimerase/ManNAc kinase | - |
Homo sapiens |
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase | two different enzyme activities combined in a single bifunctional enzyme | Homo sapiens |