PITX1

PITX1 is a protein that in humans is encoded by the PITX1 gene. It is a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression, playing a role in osteogenesis and bone development.

Function

PITX1 is a transcription factor that plays a crucial role in the development of several tissues, including hindlimb, craniofacial muscles, pituitary gland, and larynx. It is involved in the transcriptional activation of specific genes during cellular differentiation and development.

Clinical significance

Mutations in the PITX1 gene are associated with Liebenberg syndrome, a rare disorder characterized by the transformation of forearm muscles into ones normally found in the lower leg. This condition is also known as "arm to leg transformation".

Genetics

The PITX1 gene is located on the short (p) arm of chromosome 5 at position 31.1. More precisely, the PITX1 gene is located from base pair 133,591,065 to base pair 133,617,839 on chromosome 5.

See also

• Homeobox
• Transcription factor
• Liebenberg syndrome

External links

• NCBI Gene
• Genetics Home Reference

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