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 |