DISEASES

Disease-gene associations mined from literature

Literature associating SOX8 and alpha thalassemia-intellectual disability syndrome type 1

SOX8 [ENSP00000293894]

SRY (sex determining region Y)-box 8; May play a role in central nervous system, limb and facial development. May be involved in male sex determination. Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' (By similarity); SRY-boxes

Synonyms:  SOX8,  SOX8p,  hSOX8,  P57073,  SOX8-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM