Sex Determining Region Y Box Protein 9 (SOX9)

[Edit]

CMPD1; CMD1; SRA1; Campomelic Dysplasia,Autosomal Sex-Reversal; Transcription factor SOX-9

Sex Determining Region Y Box Protein 9 (SOX9)
SOX9 recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. The isolated cDNA corresponded to 3.9 kb of the transcript, but Northern blot analysis detected a 4.5-kb transcript in adult testes, adult heart, and fetal brain. The SOX9 protein HMG box domain at amino acids 104-182 showed 71% similarity with the SRY HMG box, and the C-terminal third of the protein has a proline- and glutamine-rich region similar to activation domains present in some transcription factors. The genomic arrangement of SOX9 is such that the 5-prime end is oriented toward the centromere of chromosome 17 and closest to the breakpoint. It is possible that 1 or more exons are present 5-prime to the known exons and that these are disrupted by the translocation.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
ProteinsRPG329Hu01Recombinant Sex Determining Region Y Box Protein 9 (SOX9)SDS-PAGE; WB; ELISA; IP.
AntibodiesPAG329Hu01Polyclonal Antibody to Sex Determining Region Y Box Protein 9 (SOX9)WB, ICC, IHC-P, IHC-F, ELISA
MAG329Hu21Monoclonal Antibody to Sex Determining Region Y Box Protein 9 (SOX9)WB, ICC, IHC-P, IHC-F, ELISA
Assay KitsSEG329HuELISA Kit for Sex Determining Region Y Box Protein 9 (SOX9)Enzyme-linked immunosorbent assay

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Sex Determining Region Y Box Protein 9 (SOX9)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Sex Determining Region Y Box Protein 9 (SOX9)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Sex Determining Region Y Box Protein 9 (SOX9)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Sex Determining Region Y Box Protein 9 (SOX9)CLIA Kit Customized Service Offer
n/aELISA Kit for Sex Determining Region Y Box Protein 9 (SOX9)ELISA Kit Customized Service Offer
  1. "Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene."Nature 372:525-530(1994) [PubMed] [Europe PMC] [Abstract]
  2. "Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9."Cell 79:1111-1120(1994) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "A SOX9 duplication and familial 46,XX developmental testicular disorder."N. Engl. J. Med. 364:91-93(2011) [PubMed] [Europe PMC] [Abstract]
  5. "Mutations in SRY and SOX9: testis-determining genes."Hum. Mutat. 9:388-395(1997) [PubMed] [Europe PMC] [Abstract]
  6. "Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal."Am. J. Hum. Genet. 57:1028-1036(1995) [PubMed] [Europe PMC] [Abstract]
  7. "Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations."Hum. Mol. Genet. 6:91-98(1997) [PubMed] [Europe PMC] [Abstract]
  8. "Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization."Hum. Mutat. Suppl. 1:S114-S116(1998) [PubMed] [Europe PMC] [Abstract]
  9. "Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia."J. Biol. Chem. 274:24023-24030(1999) [PubMed] [Europe PMC] [Abstract]
  10. "Acampomelic campomelic dysplasia with SOX9 mutation."Am. J. Med. Genet. 93:421-425(2000) [PubMed] [Europe PMC] [Abstract]
  11. "Acampomelic campomelic syndrome."Am. J. Med. Genet. 104:239-245(2001) [PubMed] [Europe PMC] [Abstract]
  12. "Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation."J. Biol. Chem. 276:27864-27872(2001) [PubMed] [Europe PMC] [Abstract]
  13. "Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia."Hum. Mol. Genet. 12:1439-1447(2003) [PubMed] [Europe PMC] [Abstract]
  14. "Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia."Am. J. Med. Genet. A 149:2882-2885(2009) [PubMed] [Europe PMC] [Abstract]
  15. "Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia."Hum. Mutat. 31:E1436-E1444(2010) [PubMed] [Europe PMC] [Abstract]