DISEASES

Disease-gene associations mined from literature

Literature associating PITX1 and Axenfeld-Rieger syndrome type 1

PITX1 [ENSP00000265340]

Pituitary homeobox 1; Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb. ; Belongs to the paired homeobox family. Bicoid subfamily.

Synonyms:  PITX1,  PITX1p,  hPITX1,  D6R955,  D6R9U1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM