GENE NAME | NOBOX |
CHROMOSOME | 7 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000106410 |
UNIPROT ACCESSION NUMBER | O60393 |
GO MOLECULAR FUNCTION | ['DNA-binding transcription factor activity, RNA polymerase II-specific', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'sequence-specific DNA binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
5 combinations linked to NOBOX | OLI1043; OLI1238; OLI1061; OLI093; OLI095 |
5 variants linked to NOBOX | NOBOX:c.1067G>A, p.Arg356Gln; NOBOX:c.271G>T, p.Gly91Trp; NOBOX:c.1856C>T, p.Pro619Leu; NOBOX:c.1626delC, p.Phe543SerfsTer7; NOBOX:c.1112A>C, p.Lys371Thr |
2 diseases linked to NOBOX | Primary ovarian failure; Recurrent implantation failure,Primary infertility |