GENE NAME | PAX4 |
CHROMOSOME | 7 |
ENSEMBL ID | ENSG00000106331 |
ENTREZ ID | 5078 |
UNIPROT ACCESSION NUMBER | O43316 |
GO MOLECULAR FUNCTION | sequence-specific double-stranded DNA binding; DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-1266738; R-HSA-210746; R-HSA-186712 |
1 combination linked to PAX4 | OLI132 |
1 variant linked to PAX4 | PAX4:c.575G>A, p.Arg192His |
2 diseases linked to PAX4 | MODY; Normosmic congenital hypogonadotropic hypogonadism |