Protein Variants | Comment | Organism |
---|---|---|
G133V | naturally occuring mutation of the enzyme causing impaired enzyme activity and the enzyme-deficiency phenotype | Homo sapiens |
K131Q | naturally occuring mutation of the enzyme causing impaired enzyme activity and the enzyme-deficiency phenotype | Homo sapiens |
P189L | naturally occuring mutation of the enzyme causing impaired enzyme activity and the enzyme-deficiency phenotype | Homo sapiens |
Y188H | naturally occuring mutation of the enzyme causing impaired enzyme activity and the enzyme-deficiency phenotype | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Danio rerio | Q6P0K4 | gene NANS | - |
Homo sapiens | Q9NR45 | gene NANS | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
bone | - |
Homo sapiens | - |
bone | - |
Danio rerio | - |
brain | - |
Homo sapiens | - |
brain | - |
Danio rerio | - |
Synonyms | Comment | Organism |
---|---|---|
NANS | - |
Homo sapiens |
NANS | - |
Danio rerio |
General Information | Comment | Organism |
---|---|---|
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 |
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 |
physiological function | enzyme-mediated synthesis of sialic acid is required for early brain development and skeletal growth | Danio rerio |