NANS
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]
Full Name
N-Acetylneuraminate Synthase
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).
Can also use N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of Neu5Ac and KDN, respectively (PubMed:10749855).
Biological Process
Carbohydrate biosynthetic process Source: InterPro
CMP-N-acetylneuraminate biosynthetic process Source: UniProtKB
Glycosylation Source: GO_Central
CMP-N-acetylneuraminate biosynthetic process Source: UniProtKB
Glycosylation Source: GO_Central
Cellular Location
Cytosol Source: Reactome
Extracellular region or secreted
Extracellular exosome Source: UniProtKB
Other locations
Cytoplasm
Extracellular region or secreted
Extracellular exosome Source: UniProtKB
Other locations
Cytoplasm
Involvement in disease
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.
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.
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Anti-NANS antibodies
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Target: NANS
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: A1287
Application*: Dot blot, ELISA, WB
Target: NANS
Host: Mouse
Specificity: Human, Mouse, Rat
Clone: B-1
Application*: WB, IP, IF, E
Target: NANS
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: AT1G6
Application*: E, WB
Target: NANS
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 3G6
Application*: E, WB
Target: NANS
Host: Mouse
Specificity: Human
Clone: CBWJN-0264
Application*: E, WB
Target: NANS
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 1G6
Application*: WB, E
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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