Details for Gene HESX1

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

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