Details for Gene PAX4

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

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