sry-box-9 protein; transcription factor SOX-9 (sox9)

Function

• role in the normal skeletal development
• may regulate the expression of genes involved in chondrogenesis by acting as a transcription factor

Structure

contains 1 HMG box DNA-binding domain

Compartment

nucleus (putative)

Pathology

• defects in SOX9 are the cause of campomelic dysplasia

More general terms

• sox protein

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6662
• OMIM: https://mirror.omim.org/entry/114290
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6662
• UniProt: http://www.uniprot.org/uniprot/P48436.html