| GENE NAME | OTUD4 |
| CHROMOSOME | 4 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000164164 |
| UNIPROT ACCESSION NUMBER | Q01804 |
| GO MOLECULAR FUNCTION | ['RNA binding', 'molecular adaptor activity', 'protein binding', 'Lys63-specific deubiquitinase activity', 'thiol-dependent deubiquitinase'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | |
| 4 combinations linked to OTUD4 | OLI1414; OLI1429; OLI1393; OLI302 |
| 5 variants linked to OTUD4 | OTUD4:c.1458G>T, p.Lys486Asn; OTUD4:c.998G>T, p.Gly333Val; OTUD4:c.2689C>T, p.His897Tyr; OTUD4:c.386C>G, p.Ala129Gly; OTUD4:c.909C>A, p.Ser303Arg |
| 3 diseases linked to OTUD4 | Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with partial puberty phenotype; Cerebellar ataxia-hypogonadism syndrome |