Details for Gene SHOX

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 OLI1139; OLI1143
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

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