Details for Gene ELP3

GENE NAME ELP3
CHROMOSOME 8
ENSEMBL ID ENSG00000134014
ENTREZ ID 55140
UNIPROT ACCESSION NUMBER Q9H9T3
GO MOLECULAR FUNCTION protein binding; 4 iron, 4 sulfur cluster binding; acetyltransferase activity; N-acetyltransferase activity; metal ion binding; tRNA uridine(34) acetyltransferase activity; tRNA binding; phosphorylase kinase regulator activity
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-3214847; R-HSA-4839726; R-HSA-3247509
1 combination linked to ELP3 OLI943
1 variant linked to ELP3 ELP3:c.564-2A>C,
1 disease linked to ELP3 Amyotrophic lateral sclerosis

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