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GeneQ18031654· pop 11· linked from 861 articles

Also known as CMD1, CMPD1, SRA1, SRXX2, SRXY10, SRY-box 9, SRY-box transcription factor 9

Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.

Gene data

SOX9
Name
SRY-box transcription factor 9
Type
protein-coding
Aliases
CMD1, CMPD1, ENH13, SRA1, SRXX2, SRXY10, TESCO

The protein encoded by this gene 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. [provided by RefSeq, Jul 2008].

via MyGene.info

Wikidata facts

Image
Protein SOX9 PDB 1S9M.png
Show 5 more facts
HomoloGene ID
294
genomic end
70122561
genomic start
70117161
cytogenetic location
17q24.3
Sources (5)

via Wikidata · CC0

~6 min read

Article

10 sections
Contents
  • Function
  • Clinical significance
  • SOX9 localization and dynamics
  • Role in Sexual Differentiation
  • Interactions
  • Knock out models
  • See also
  • Further reading
  • References
  • External links

Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.

== Function ==

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via Wikidata sitelinks · CC0

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