Gene
nansb
- ID
- ZDB-GENE-041114-125
- Name
- N-acetylneuraminic acid synthase b
- Symbol
- nansb Nomenclature History
- Previous Names
-
- zgc:101549 (1)
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable catalytic activity. Predicted to act upstream of or within carbohydrate biosynthetic process. Predicted to be located in extracellular region. Human ortholog(s) of this gene implicated in spondyloepimetaphyseal dysplasia, Genevieve-type. Orthologous to human NANS (N-acetylneuraminate synthase).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Zhang et al., 2017
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
spondyloepimetaphyseal dysplasia, Genevieve-type | Alliance | Spondyloepimetaphyseal dysplasia, Genevieve type | 610442 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR006190 | Antifreeze-like/N-acetylneuraminic acid synthase C-terminal |
Domain | IPR013132 | N-acetylneuraminic acid synthase, N-terminal |
Domain | IPR013974 | SAF domain |
Family | IPR051690 | Nonulosonic Acid Synthase |
Homologous_superfamily | IPR013785 | Aldolase-type TIM barrel |
Homologous_superfamily | IPR036732 | Antifreeze-like/N-acetylneuraminic acid synthase C-terminal domain superfamily |
Domain Details Per Protein
Protein | Length | Aldolase-type TIM barrel | Antifreeze-like/N-acetylneuraminic acid synthase C-terminal | Antifreeze-like/N-acetylneuraminic acid synthase C-terminal domain superfamily | N-acetylneuraminic acid synthase, N-terminal | Nonulosonic Acid Synthase | SAF domain |
---|---|---|---|---|---|---|---|
UniProtKB:Q5U3W7
|
352 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available