Variants
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PITX2 Gene

paired like homeodomain 2

ALIAS SYMBOLS

  • IGDS

  • RS

  • Brx1

  • Otlx2

  • ARP1

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Description

The PITX2 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this action, the PITX2 protein is called a transcription factor. The PITX2 gene is part of a family of homeobox genes, which act during early embryonic development to control the formation of many parts of the body.

The PITX2 protein plays a critical role in early development, particularly in the formation of structures in the front part of the eye (the anterior segment). These structures include the colored part of the eye (the iris), the lens of the eye, and the clear front covering of the eye (the cornea). Studies suggest that the PITX2 protein also has functions in the adult eye, such as helping cells respond to oxidative stress. Oxidative stress occurs when unstable molecules called free radicals accumulate to levels that can damage or kill cells.

The PITX2 protein is also involved in the normal development of other parts of the body, including the teeth, heart, and abdominal organs.

CHROMOSOME

4


LOCATION

q25


LOCUS TYPE

gene with protein product

VARIANTS

130

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:9005

  • NCBI

    5308

  • OMIM

    601542

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