Details for Gene DNAJC30

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

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