SOX9 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SOX9 wild-type allele is located within 17q24.3-q25.1 and is approximately 5 kb in length. This allele, which encodes transcription factor SOX-9, plays roles in transcriptional regulation, osteogenesis, chondrogenesis and control of testis development. Mutations in this gene are associated with campomelic dysplasia.

**Synonyms:** - CMD1 - CMPD1 - SRA1 - SRXX2 - SRXY10 - SRY (Sex Determining Region Y)-Box 9 (Campomelic Dysplasia, Autosomal Sex-Reversal) Gene - SRY-Box 9 wt Allele - SRY-Related HMG-Box Gene 9