Details for Gene SOX30

GENE NAME SOX30
CHROMOSOME 5
ENSEMBL ID ENSG00000039600
ENTREZ ID 11063
UNIPROT ACCESSION NUMBER O94993
GO MOLECULAR FUNCTION protein binding; DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription repressor activity, RNA polymerase II-specific; sequence-specific double-stranded DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA-binding transcription factor activity; DNA binding
ESSENTIAL IN MOUSE None
PATHWAYS
1 combination linked to SOX30 OLI575
1 variant linked to SOX30 SOX30:c.455C>T, p.Pro152Leu
1 disease linked to SOX30 Disorder of sex development

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