Literature associating SOX9 and spondyloepimetaphyseal dysplasia
SRY (sex determining region Y)-box 9; Transcriptional regulator. Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with ZNF219 (By similarity). Plays a role in chondrocyte differentiation (By similarity). Important for normal skeletal development; SRY-boxes
Synonyms: SOX9, SOX9p, hSOX9, P48436, U5XJZ4 ...