| SOX9 |
| LOCUS ID | 6662 | ||||||||||
| GENE_SYMBOL | SOX9 | ||||||||||
| GENE NAME | SRY (sex determining | ||||||||||
| SYNONYMNS | CMD1, SRA1, CMPD1 | ||||||||||
| CHROMOSOME | 17 | ||||||||||
| HOMOLOGENE ID | 294 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class D-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] |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. HIF-1alpha and BMP4 induce SOX9 expression and subsequent chondrogenic phenotype change in DN. | 21795715 |