DISEASES

Disease-gene associations mined from literature

Literature associating SIX5 and branchiootorenal syndrome

SIX5 [ENSP00000316842]

DM locus-associated homeodomain protein; Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5'-GGTGTCAG-3' motif present in the ARE regulatory element of ATP1A1. Binds a 5'- TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the myogenin promoter, and in the IGFBP5 promoter (By similarity). Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3 (By similarity); SINE class homeoboxes

Synonyms:  SIX5,  SIX5p,  hSIX5,  H0YLF6,  Q8N196 ...

Linkouts:  STRING  Pharos  UniProt  OMIM