NANS
Function
Produces N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN) (PubMed:10749855, PubMed:27213289). Can also use N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of Neu5Ac and KDN, respectively (PubMed:10749855).
Involvement in disease
Spondyloepimetaphyseal dysplasia, Genevieve type
SEMDG
An autosomal recessive disorder characterized by global developmental delay with infantile onset, intellectual disability, skeletal dysplasia, and short stature. Skeletal findings include flat vertebral bodies with irregular vertebral plates, irregular and flared metaphyses with vertical striations, small and irregular epiphyses, premature carpal ossification and small carpal bones.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Ubiquitous.
Alternative names
SAS, NANS, Sialic acid synthase, N-acetylneuraminate synthase, N-acetylneuraminate-9-phosphate synthase, N-acetylneuraminic acid phosphate synthase, N-acetylneuraminic acid synthase