GENE NAME | LHX4 |
CHROMOSOME | 1 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000121454 |
UNIPROT ACCESSION NUMBER | Q969G2 |
GO MOLECULAR FUNCTION | ['sequence-specific DNA binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'sequence-specific double-stranded DNA binding', 'methyl-CpG binding', 'protein binding', 'RNA polymerase II transcription regulatory region sequence-specific DNA binding', 'metal ion binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-1266738; R-HSA-376176; R-HSA-422475; R-HSA-9010553; R-HSA-9675108 |
6 combinations linked to LHX4 | OLI1160; OLI1162; OLI1163; OLI1172; OLI960; OLI1529 |
4 variants linked to LHX4 | LHX4:c.359G>A, p.Cys120Tyr; LHX4:c.913G>T, p.Gly305Trp; LHX4:c.384C>T, p.Asp128=; LHX4:c.385G>A, p.Glu129Lys |
3 diseases linked to LHX4 | Non-acquired combined pituitary hormone deficiency; 46,XY disorder of sex development; Kallmann syndrome |