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PITX1

Protein-coding gene in humans From Wikipedia, the free encyclopedia

PITX1
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Paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.[5][6][7]

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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.[7]

Clinical relevance

Mutations in this gene have been associated with autism,[8] club foot[9] and polydactyly[10] in humans.

Genetic basis of pathologies

Genomic rearrangements at the PITX1 locus are associated with Liebenberg syndrome.[11] In PITX1 Liebenberg is associated with a translocation or deletions, which cause insert promoter groups into the PITX1 locus.[11] A missense mutation within the PITX1 locus is associated with the development of autosomal dominant clubfoot.[9]

Interactions

PITX1 has been shown to interact with pituitary-specific positive transcription factor 1.[12]

References

Further reading

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