PITX1
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.[1][2][3]
Contents
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] and polydactyly[5] 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.[6]
References
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External links
- PITX1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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