Species Human Entrez 5307 | Human Mouse Ensembl ENSG00000069011 | |
 | ||
Aliases PITX1, BFT, CCF, LBNBG, POTX, PTX1, paired like homeodomain 1 External IDs MGI: 107374 HomoloGene: 20584 GeneCards: PITX1 | ||
paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.
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.
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.
References
PITX1 Wikipedia(Text) CC BY-SA