Details for Gene SIX5

GENE NAME SIX5
CHROMOSOME 19
ENSEMBL ID ENSG00000177045
ENTREZ ID 147912
UNIPROT ACCESSION NUMBER Q8N196
GO MOLECULAR FUNCTION DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding; protein binding; DNA-binding transcription factor activity, RNA polymerase II-specific
ESSENTIAL IN MOUSE Non-essential
PATHWAYS
1 combination linked to SIX5 OLI960
1 variant linked to SIX5 SIX5:c.2146G>A, p.Glu716Lys
1 disease linked to SIX5 Non-acquired combined pituitary hormone deficiency

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