Family

Transcription factor SOX-9 (IPR029548)

Short name: SOX-9

Family relationships

None.

Description

SOX-9 is a HMG box transcription factor that plays an important role in the normal skeletal development [PMID: 18692165]. It may regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes [PMID: 18816826]. It plays an important part in the self-organising Turing network, which drives digit specification during limb development [PMID: 25082703].

Mutations in SOX-9 gene cause the Campomelic dysplasia (CMD1), which is a rare, often lethal, dominantly inherited, congenital osteochondrodysplasia, associated with male-to-female autosomal sex reversal in two-thirds of the affected karyotypic males [PMID: 7485151, PMID: 19921652].

GO terms

Biological Process

GO:0006355 regulation of transcription, DNA-templated

Molecular Function

GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding

Cellular Component

GO:0005634 nucleus

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER