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The SOX9 protein recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal.
Gene Name: | SRY (sex determining region Y)-box 9 |
Family/Subfamily: | Transcription factor |
Synonyms: | SOX9, CMD1, CMPD1, SRY-related HMG-box, gene 9, Transcription factor SOX-9 |
Target Sequences: | NM_000346 NP_000337.1 P48436 |
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