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 |