The KL gene provides instructions for making the protein alpha-klotho, which is found primarily in kidney cells. This protein plays a major role in regulating the phosphate levels within the body (phosphate homeostasis). Among its many functions, phosphate plays a critical role in the formation and growth of bones in childhood and helps maintain bone strength in adults. Phosphate levels are controlled in large part by the kidneys. The kidneys normally rid the body of excess phosphate by excreting it in urine, and they reabsorb this mineral into the bloodstream when more is needed.
Alpha-klotho attaches (binds) to and turns on (activates) a protein called FGF receptor 1 that spans the membrane of many types of cells, including kidney cells. Once the receptor is active, another protein called fibroblast growth factor 23 can also bind to it. Binding of fibroblast growth factor 23 to its receptor stimulates signaling that stops phosphate reabsorption into the bloodstream.
Other Names
alpha-klotho; KLOT_HUMAN; klotho precursor
Related Genetics Topics
- Hyperphosphatemic familial tumoral calcinosis — MedlinePlus Genetics
- Kidney stones — MedlinePlus Genetics
Identifiers
- NCBI Gene: 9365
- OMIM: 604824
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
