PITX1
Template:Short description Template:Infobox gene Paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.[1][2][3]
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.[3]
Clinical relevance
Mutations in this gene have been associated with autism,[4] club foot[5] and polydactyly[6] in humans.
Genetic basis of pathologies
Genomic rearrangements at the PITX1 locus are associated with Liebenberg syndrome.[7] In PITX1 Liebenberg is associated with a translocation or deletions, which cause insert promoter groups into the PITX1 locus.[7] A missense mutation within the PITX1 locus is associated with the development of autosomal dominant clubfoot.[5]
Interactions
PITX1 has been shown to interact with pituitary-specific positive transcription factor 1.[8]
References
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Further reading
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External links
- Template:Replace at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- https://omim.org/entry/602149 at OMIM, holds the most up to date information on PITX1.
- https://ghr.nlm.nih.gov/gene/PITX1 at the NIH, has a summary on the effects of PITX1 mutations.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.