DISEASES

Disease-gene associations mined from literature

Literature associating SOX8 and Waardenburg syndrome type 2E

SOX8 [ENSP00000293894]

Transcription factor SOX-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).

Synonyms:  SOX8,  SOX8p,  hSOX8,  P57073,  P57073p ...

Linkouts:  STRING  Pharos  UniProt  OMIM