GENE NAME | HESX1 |
CHROMOSOME | 3 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000163666 |
UNIPROT ACCESSION NUMBER | Q9UBX0 |
GO MOLECULAR FUNCTION | ['RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'chromatin binding', 'protein N-terminus binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'DNA binding', 'sequence-specific double-stranded DNA binding', 'protein C-terminus binding', 'protein binding', 'RNA polymerase II transcription regulatory region sequence-specific DNA binding', 'protein homodimerization activity', 'DNA-binding transcription repressor activity, RNA polymerase II-specific'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04550; hsa04550 |
1 combination linked to HESX1 | OLI1280 |
2 variants linked to HESX1 | HESX1:c.531A>C, p.Lys177Asn; HESX1:c.533delA, p.Asn178IlefsTer10 |
1 disease linked to HESX1 | Normosmic congenital hypogonadotropic hypogonadism |