PITX1 (paired-like homeodomain 1) is a homeodomain transcription factor related to bicoid. This gene is localized to human chromosome 5q31.1 and is expressed in hind limbs. It is also expressed in anterior pituitary, and is first expressed during early stages of development in Rathke's pouch.
Synonyms: Anti-Hindlimb-expressed homeobox protein backfoot; Anti-Pituitary homeobox 1
Storage: -20C
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Biochem Physiol Actions: PITX1 (paired-like homeodomain 1) is responsible for the development of hindlimbs in vertebrates. Mutations in this gene result in autosomal-dominant clubfoot malformation. Mutations also result in a wide range of lower limb malformations, including insufficiency of long bones and mirror-image polydactyly. This protein is down-regulated in lung and colorectal cancers and is involved in the development of pituitary gland. It functions as a tumor suppressor, and negatively regulates RAS (rat sarcoma) activity and TERT (telomerase reverse transcriptase) expression in melanoma cell lines. It controls the transcriptional response to hypoxia mediated by hypoxia inducible factor (HIF)a, and thus, might have potential as a therapeutic target in hypoxic cancers.
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