Gene

nansa

ID

ZDB-GENE-030131-1500

Name

N-acetylneuraminic acid synthase a

Symbol

nansa Nomenclature History

Previous Names

nans
fb73c01
wu:fb73c01
zgc:77126 (1)

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Predicted to have catalytic activity. Involved in embryonic skeletal system development. Human ortholog(s) of this gene implicated in spondyloepimetaphyseal dysplasia, Genevieve-type. Is expressed in several structures, including alar plate midbrain region; axis; digestive system; hatching gland; and polster. Orthologous to human NANS (N-acetylneuraminate synthase).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

7 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:6909117 (8 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from van Karnebeek et al., 2016
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With nansa Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
spondyloepimetaphyseal dysplasia, Genevieve-type	Alliance	Spondyloepimetaphyseal dysplasia, Genevieve type	610442

Associated With nansa Via Experimental Models

No data available

Gene Ontology

Protein Domains

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	IPR006013	Antifreeze, type III
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