Paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.[5][6][7]
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.[7]
Mutations in this gene have been associated with autism,[8] club foot[9] and polydactyly[10] in humans.
Genomic rearrangements at the PITX1 locus are associated with Liebenberg syndrome.[11] In PITX1 Liebenberg is associated with a translocationordeletions, which cause insert promoter groups into the PITX1 locus.[11]Amissense mutation within the PITX1 locus is associated with the development of autosomal dominant clubfoot.[9]
PITX1 has been shown to interact with pituitary-specific positive transcription factor 1.[12]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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1yz8: Solution structure of the k50 class homeodomain pitx2 bound to dna and implications for mutations that cause rieger syndrome
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