GENE NAME | SHOX |
CHROMOSOME | X |
ENSEMBL ID | ENSG00000185960 |
ENTREZ ID | 6473 |
UNIPROT ACCESSION NUMBER | O15266 |
GO MOLECULAR FUNCTION | protein binding; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA-binding transcription activator activity, RNA polymerase II-specific; sequence-specific double-stranded DNA binding; sequence-specific DNA binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
2 combinations linked to SHOX | OLI1143; OLI1139 |
2 variants linked to SHOX | SHOX:c.698C>T, p.Ala233Val; SHOX:c.547G>A, p.Val183Ile |
1 disease linked to SHOX | Mayer-Rokitansky-Küster-Hauser syndrome |