Gene: SOX9-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 17

Location in Chromosome : 17q24.3

Description of this Gene: SOX9 antisense RNA 1

Type of Gene: ncRNA

Gene: SOX9

Alternate names for this Gene: CMD1|CMPD1|SRA1|SRXX2|SRXY10

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q24.3

Description of this Gene: SRY-box transcription factor 9

Type of Gene: protein-coding

rs137853128 in SOX9-AS1;SOX9 gene and CAMPOMELIC DYSPLASIA PMID 9002675 1997 Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.

PMID 11754051 2001 Acampomelic campomelic syndrome.

PMID 10951468 2000 Acampomelic campomelic dysplasia with SOX9 mutation.

PMID 19033726 2008 Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases.

PMID 10446171 1999 Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia.

PMID 20513132 2010 Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.

PMID 12783851 2003 A long-term survivor with the acampomelic form of CD has an A76E amino acid substitution, while a severely affected CD patient had an in-frame deletion of amino acid residues 66-75.

PMID 24038782 2013 A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.

PMID 7485151 1995 Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

PMID 11323423 2001 Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.

PMID 19921652 2009 Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.

PMID 9452059 1998 Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.

PMID 12783851 2003 Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.