DISEASES

Disease-gene associations mined from literature

Literature associating SOX9 and alpha thalassemia-intellectual disability syndrome type 1

SOX9 [ENSP00000245479]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM