DALRD3

The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709).

Full Name

DALR anticodon binding domain containing 3

Function

Involved in tRNA methylation. Facilitates the recognition and targeting of tRNA(Arg)(CCU) and tRNA(Arg)(UCU) substrates for N3-methylcytidine modification by METTL2A and METTL2B.

Biological Process

Arginyl-tRNA aminoacylation Source: InterPro
tRNA C3-cytosine methylation Source: UniProtKB

Involvement in disease

Developmental 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.