GENE NAME | DNAJC30 |
CHROMOSOME | 7 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000176410 |
UNIPROT ACCESSION NUMBER | Q96LL9 |
GO MOLECULAR FUNCTION | ['protein binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
1 combination linked to DNAJC30 | OLI1589 |
2 variants linked to DNAJC30 | DNAJC30:c.152A>G, p.Tyr51Cys; DNAJC30:c.130_131del, p.Ser44ValfsTer8 |
1 disease linked to DNAJC30 | Leigh syndrome |