DISEASES

Disease-gene associations mined from literature

Literature associating POU3F3 and Williams-Beuren syndrome

POU3F3 [ENSP00000355001]

Brain-specific homeobox/POU domain protein 1; Transcription factor that acts synergistically with SOX11 and SOX4. Plays a role in neuronal development. Is implicated in an enhancer activity at the embryonic met- mesencephalic junction; the enhancer element contains the octamer motif (5'-ATTTGCAT-3') (By similarity); POU class homeoboxes and pseudogenes

Synonyms:  POU3F3,  POU3F3p,  hPOU3F3,  P20264,  BRN1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM