PITX1

Function

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin.

Clinical relevance

Mutations in this gene have been associated with autism and polydactyly in humans.

Genomic rearrangements at the PITX1 locus are associated with Liebenberg syndrome.

Interactions

PITX1 has been shown to interact with Pituitary-specific positive transcription factor 1.