Symbol: Name: ID: |
SOX9 SRY (sex determining region Y)-box 9 GFS:1105 |
Gene name: | SOX9 |
Chromosome: | 17q23 |
Previous Symbols: | CMD1, CMPD1 |
Previous Names: | campomelic dysplasia, autosomal sex-reversal |
Aliases: | SRA1 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:98371 | Rat Genome Database ID: | |
HGNC ID: | HGNC:11204 | RefSeq IDs: | NM_000346 |
Entrez Gene ID: | 6662 | Ensembl Gene ID: | ENSG00000125398 |
VEGA IDs: | UniProt ID: | P48436 | |
UCSC ID: | uc002jiw.2 | OMIM ID: | 608160 |
Pubmed: | PMID8348155 | ||
CCDS IDs: | CCDSCCDS11689.1 |
Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene. 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes.
Products for SOX9 gene
Catalog | Product Name | Application | Company |
GFS:E01105 | SRY (sex determining region Y)-box 9; ELISA kit | ELISA | n/a |
GFS:A01105 | SRY (sex determining region Y)-box 9; Anti | ANTIBODIES | n/a |
GFS:P01105 | SRY (sex determining region Y)-box 9; Protien | Protien | n/a |