NANS gene

N-acetylneuraminate synthase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008]

From UniProt:

Produces N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN). Can also use N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of Neu5Ac and KDN, respectively.

From NCBI Gene:

  • Spondyloepimetaphyseal dysplasia Genevieve type

From UniProt:

Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG): An autosomal recessive disorder characterized by global developmental delay with infantile onset, mental retardation, 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. [MIM:610442]

Cytogenetic Location: 9q22.33, which is the long (q) arm of chromosome 9 at position 22.33

Molecular Location: base pairs 98,056,677 to 98,083,083 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q22.33, which is the long (q) arm of chromosome 9 at position 22.33
  • HEL-S-100
  • SAS
  • SEMDCG
  • SEMDG