Details for Gene DUXA

GENE NAME DUXA
CHROMOSOME 19
ENSEMBL ID None
ENTREZ ID ENSG00000258873
UNIPROT ACCESSION NUMBER A6NLW8
GO MOLECULAR FUNCTION ['sequence-specific double-stranded DNA binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'RNA polymerase II transcription regulatory region sequence-specific DNA binding']
ESSENTIAL IN MOUSE None
PATHWAYS
1 combination linked to DUXA OLI1679
1 variant linked to DUXA DUXA:c.118C>T, p.Pro40Ser
1 disease linked to DUXA Non-Syndromic genetic keratoconus

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