Entity Details

Primary name DALRD3
Entity type gene
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Details

PrimaryID55152
RefseqGeneNG_016282
SymbolDALRD3
NameDALR anticodon binding domain containing 3
Chromosome3
Location3p21.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDALD3_HUMAN

GO terms

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GOName
GO:0000049 tRNA binding
GO:0004814 arginine-tRNA ligase activity
GO:0005524 ATP binding
GO:0006420 arginyl-tRNA aminoacylation
GO:0106217 tRNA C3-cytosine methylation

Diseases

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Disease IDSourceNameDescription
618910 OMIMDevelopmental and epileptic encephalopathy 86 (DEE86)A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE86 inheritance is autosomal recessive. The disease may be caused by variants affecting the gene represented in this entry.