PITX3

PITX3 is a gene that in humans is encoded by the PITX3 protein. 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. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin.

Structure

The PITX3 gene is located on the 10th chromosome, with its specific location being 10q25. It spans 15 kb and contains 4 exons. The PITX3 protein consists of 302 amino acids, with a molecular weight of approximately 33 kDa.

Function

PITX3 is a transcription factor that plays a significant role in the development and survival of midbrain dopaminergic neurons. Mutations in this gene are associated with autosomal recessive early-onset Parkinson's disease.

Clinical significance

Mutations in the PITX3 gene are associated with anterior segment dysgenesis and congenital cataracts. These mutations can lead to the development of eye diseases such as Peters anomaly, posterior polar cataract, and juvenile-onset cataracts.

See also

• Homeobox
• Transcription factor
• Parkinson's disease
• Cataract

References

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External links

• NCBI Gene
• NIH Genetics Home Reference

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