Details for Gene PROP1

GENE NAME PROP1
CHROMOSOME 5
ENSEMBL ID None
ENTREZ ID ENSG00000175325
UNIPROT ACCESSION NUMBER O75360
GO MOLECULAR FUNCTION ['chromatin binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'beta-catenin 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', 'protein C-terminus binding', 'protein binding', 'DNA-binding transcription repressor activity, RNA polymerase II-specific']
ESSENTIAL IN MOUSE Essential
PATHWAYS
6 combinations linked to PROP1 OLI020; OLI602; OLI1385; OLI1386; OLI1415; OLI1520
5 variants linked to PROP1 PROP1:c.152G>T, p.Gly51Val; PROP1:p.Arg112Gln; PROP1:c.150del, p.Arg53AspfsTer112; PROP1:c.425C>T, p.Ala142Val; PROP1:c.302G>T, p.Ser101Ile
5 diseases linked to PROP1 46,XY disorder of sex development; Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with partial puberty phenotype; Disorder of sex development; Congenital hypogonadotropic hypogonadism

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