GENE NAME | NUBPL |
CHROMOSOME | 14 |
ENSEMBL ID | ENSG00000151413 |
ENTREZ ID | 80224 |
UNIPROT ACCESSION NUMBER | Q8TB37 |
GO MOLECULAR FUNCTION | protein binding; 4 iron, 4 sulfur cluster binding; ATP hydrolysis activity; ATP binding; nucleotide binding; iron-sulfur cluster binding; metal ion binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-6799198; R-HSA-611105; R-HSA-1428517; R-HSA-163200; R-HSA-1430728 |
1 combination linked to NUBPL | OLI812 |
1 variant linked to NUBPL | NUBPL:IVS8DS, |
1 disease linked to NUBPL | Recurrent exertional rhabdomyolysis |