CMD 1, campomelic dysplasia autosomal sex reversal, SRA1, SRXX2, SRXY10, SRY (sex determining region Y) box 9, SRY related HMG box gene 9, Transcription factor SOX 9
The specificity of this monoclonal antibody to its intended target was validated by HuProtTM Array, containing more than 19,000, full-length human proteins. 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. Nucleus (Potential). Campomelic dysplasia (CMD1) [MIM:114290]: Rare, often lethal, dominantly inherited, congenital osteo-chondrodysplasia, associated with male-to-female autosomal sex reversal in two-thirds of the affected karyotypic males. A disease of the newborn characterized by congenital bowing and angulation of long bones, unusually small scapulae, deformed pelvis and spine and a missing pair of ribs. Craniofacial defects such as cleft palate, micrognathia, flat face and hypertelorism are common.
