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Literature summary extracted from

  • van Karnebeek, C.D.; Bonafe, L.; Wen, X.Y.; Tarailo-Graovac, M.; Balzano, S.; Royer-Bertrand, B.; Ashikov, A.; Garavelli, L.; Mammi, I.; Turolla, L.; Breen, C.; Donnai, D.; Cormier, V.; Heron, D.; Nishimura, G.; Uchikawa, S.; Campos-Xavier, B.; Rossi, A.; Hennet, T.; Brand-Arzamendi, K.; Rozmus, J.
    NANS-mediated synthesis of sialic acid is required for brain and skeletal development (2016), Nat. Genet., 48, 777-784.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
2.5.1.56 G133V naturally occuring mutation of the enzyme causing impaired enzyme activity and the enzyme-deficiency phenotype Homo sapiens
2.5.1.56 K131Q naturally occuring mutation of the enzyme causing impaired enzyme activity and the enzyme-deficiency phenotype Homo sapiens
2.5.1.56 P189L naturally occuring mutation of the enzyme causing impaired enzyme activity and the enzyme-deficiency phenotype Homo sapiens
2.5.1.56 Y188H naturally occuring mutation of the enzyme causing impaired enzyme activity and the enzyme-deficiency phenotype Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
2.5.1.56 Danio rerio Q6P0K4 gene NANS
-
2.5.1.56 Homo sapiens Q9NR45 gene NANS
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.5.1.56 bone
-
 Homo sapiens
-
2.5.1.56 bone
-
 Danio rerio
-
2.5.1.56 brain
-
 Homo sapiens
-
2.5.1.56 brain
-
 Danio rerio
-

Synonyms

EC Number Synonyms Comment Organism
2.5.1.56 NANS
-
 Homo sapiens
2.5.1.56 NANS
-
 Danio rerio

General Information

EC Number General Information Comment Organism
2.5.1.56 malfunction biallelic mutations in gene NANS, the gene encoding N-acetylneuraminic acid synthase, in nine individuals causes infantile-onset severe developmental delay and skeletal dysplasia. The main clinical features of the dis­order included a prenatal history that is unremarkable in all patients except for one, in whom prenatal hydrocephalus is diagnosed. Patient body fluids show an elevation in N-acetyl-D-mannosamine levels, and patient-derived fibroblasts have reduced enzyme activity and are unable to incorporate sialic acid precursors into sialylated glycoproteins, phenotypes, overview Homo sapiens
2.5.1.56 malfunction knockdown of nansa in zebrafish embryos results in abnormal skeletal development, but with normal sialylation of plasma proteins, and exogenously added sialic acid partially rescues the skeletal phenotype Danio rerio
2.5.1.56 physiological function enzyme-mediated synthesis of sialic acid is required for early brain development and skeletal growth Danio rerio