ALPPL2
Description
The ALPL2 gene provides instructions for making a protein called tissue-nonspecific alkaline phosphatase (TNAP). TNAP plays a crucial role in bone development and mineralization, as well as other biological processes. It is involved in the breakdown of phosphate esters, the transport of phosphate ions, and the regulation of calcium levels. Mutations in ALPL2 can lead to a variety of health problems, primarily affecting bone development and metabolism.
Associated Diseases
- Hypophosphatasia (HPP): A group of disorders characterized by inadequate bone mineralization, leading to skeletal deformities, fractures, and dental problems.
- Rickets: A condition marked by soft and weak bones in children, often due to vitamin D deficiency or impaired calcium and phosphorus absorption.
- Osteomalacia: A condition similar to rickets but affecting adults, causing bone pain, weakness, and fractures.
- Hypophosphatemia: A condition characterized by low levels of phosphate in the blood.
- Other disorders affecting bone development and metabolism.
Did you know?
TNAP is also found in other tissues besides bone, such as the liver, intestines, and placenta, suggesting its broader involvement in biological processes.
