| GENE NAME | SOX10 |
| CHROMOSOME | 22 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000100146 |
| UNIPROT ACCESSION NUMBER | P56693 |
| GO MOLECULAR FUNCTION | ['DNA-binding transcription activator activity', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'transcription cis-regulatory region binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'DNA binding', 'sequence-specific double-stranded DNA binding', 'protein binding', 'promoter-specific chromatin binding', 'DNA-binding transcription factor binding', 'identical protein binding', 'DNA-binding transcription factor activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-1266738; R-HSA-9619665; R-HSA-9675108 |
| 8 combinations linked to SOX10 | OLI1596; OLI1388; OLI1599; OLI1264; OLI1387; OLI1323; OLI1598; OLI1109 |
| 8 variants linked to SOX10 | SOX10:c.767C>T, p.Pro256Leu; SOX10:c.967G>A, p.Ala323Thr; SOX10:c.593G>A, p.Gly198Asp; SOX10:c.713C>T, p.Pro238Leu; SOX10:c.1038_1039del, p.Pro347ThrfsTer54; SOX10:c.481C>T, p.Arg161Cys; SOX10:c.191A>T, p.Asp64Val; SOX10:c.89C>A, p.Ser30Ter |
| 3 diseases linked to SOX10 | Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with partial puberty phenotype; Kallmann syndrome |