| GENE NAME | NR0B1 |
| CHROMOSOME | X |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000169297 |
| UNIPROT ACCESSION NUMBER | P51843 |
| GO MOLECULAR FUNCTION | ['RNA binding', 'transcription factor binding', 'DNA hairpin binding', 'RNA polymerase II-specific DNA-binding transcription factor binding', 'protein domain specific binding', 'nuclear receptor binding', 'protein binding', 'transcription corepressor activity', 'protein homodimerization activity'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa04927; hsa04927 |
| 6 combinations linked to NR0B1 | OLI1553; OLI1107; OLI1418; OLI1568; OLI1355; OLI1171 |
| 6 variants linked to NR0B1 | NR0B1:c.1071G>T, p.Gln357His; NR0B1:c.443G>A, p.Ser148Asn; NR0B1:c.379G>A, p.Ala127Thr; NR0B1:c.1253C>T, p.Thr418Met; NR0B1:c.16C>A, p.His6Asn; NR0B1:c.979G>A, p.Glu327Lys |
| 5 diseases linked to NR0B1 | 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development; Hypogonadotropic hypogonadism with absent puberty phenotype; Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome |