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Where is the FGF23 gene located?

Published in Gene Location 2 mins read

The FGF23 gene is located on chromosome 12 in humans, specifically at the chromosomal band 12p13.

This precise genetic address is crucial for understanding its function and the implications of its mutations.

Detailed Location Breakdown

The Fibroblast Growth Factor 23 (FGF23) gene occupies a specific position within the human genome. Findings, including those by The ADHR Consortium in 2000, have pinpointed its location with high accuracy:

  • Chromosome: FGF23 is found on human chromosome 12.
  • Arm: It is situated on the short arm, commonly referred to as the "p-arm."
  • Band: The exact band location is 12p13. This designation refers to a specific region on the short arm of chromosome 12.
  • Relative Position: Further detailing its precise placement, the FGF23 gene lies approximately 54 kilobases (kb) telomeric to the FGF6 gene (Fibroblast Growth Factor 6), which also resides at 12p13.

This table summarizes the key location details:

Feature Detail
Chromosome 12
Arm p (short arm)
Band 13
Full Location 12p13
Relative to FGF6 54 kb telomeric

Importance of FGF23

FGF23 is a hormone primarily produced by bone cells. It plays a critical role in the regulation of phosphate and vitamin D metabolism in the body. Dysregulation of FGF23 can lead to various health issues, including:

  • Hypophosphatemia: Low levels of phosphate in the blood, often associated with conditions like X-linked hypophosphatemia (XLH).
  • Hyperphosphatemia: Excessively high levels of phosphate, which can contribute to chronic kidney disease and cardiovascular complications.

Understanding the gene's exact location, as detailed on resources like OMIM, is fundamental for genetic diagnostics, research into related disorders, and the development of targeted therapies.