The PHEX gene provides instructions for making the PHEX enzyme, which appears to be important for the proper development of the bones and teeth.
Studies suggest that the PHEX enzyme affects the activity of fibroblast growth factor 23, which is a protein that helps regulate phosphate levels within the body. Phosphate is a mineral that plays a critical role in the formation and growth of bones during childhood and helps maintain bone strength in adults. Fibroblast growth factor 23 works within the intestines and the kidneys to keep the body’s phosphate levels in balance.
The PHEX enzyme may also be involved in the process that deposits minerals into developing bones and teeth (mineralization). Mineralization is critical for the formation of bones that are strong and rigid and teeth that can withstand chewing and grinding. The PHEX enzyme may interact with molecules that play a key role in regulating bone mineralization.
Researchers are working to learn more about the various functions of the PHEX enzyme and its interaction with fibroblast growth factor 23.
Other Names
HPDR; HPDR1; HYP; HYP1; PEX; phosphate regulating endopeptidase homolog, X-linked
Related Genetics Topics
Identifiers
- NCBI Gene: 5251
- OMIM: 300550
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
