ASNS

GPTKB entity

Statements (21)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeSplicing yes
gptkbp:associatedWith asparagine synthetase deficiency
gptkbp:encodes asparagine synthetase
gptkbp:Entrez_Gene_ID 440
ENSG00000070669
gptkbp:fullName asparagine synthetase (glutamine-hydrolyzing)
gptkbp:function catalyzes the synthesis of asparagine from aspartate
involved in amino acid biosynthesis
gptkbp:geneType protein-coding
gptkbp:HGNC_ID gptkb:HGNC:746
https://www.w3.org/2000/01/rdf-schema#label ASNS
gptkbp:locatedOnChromosome 7
gptkbp:mutationAssociatedWith microcephaly
progressive encephalopathy
gptkbp:OMIM 108370
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse Asns
gptkbp:UniProtID P08243
gptkbp:bfsParent gptkb:NASDAQ:_ASNS
gptkbp:bfsLayer 6