Details for Gene DMRT1

GENE NAME DMRT1
CHROMOSOME 9
ENSEMBL ID None
ENTREZ ID ENSG00000137090
UNIPROT ACCESSION NUMBER Q9Y5R6
GO MOLECULAR FUNCTION ['chromatin binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'sequence-specific double-stranded DNA binding', 'metal ion binding', 'cis-regulatory region sequence-specific DNA binding', 'identical protein binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-1266738; R-HSA-9690406
1 combination linked to DMRT1 OLI1551
1 variant linked to DMRT1 DMRT1:c.149G>C, p.Ser50Thr
1 disease linked to DMRT1 46,XY disorder of sex development

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