Human Alkaline Phosphatase, Tissue-Nonspecific Isozyme (ALPL) Protein

Background

Alkaline phosphatase, tissue-nonspecific isozyme (ALPL) is an enzyme encoded by the ALPL gene in humans. It is also commonly known as tissue-nonspecific alkaline phosphatase (TNAP). ALPL is a type of alkaline phosphatase found in bone, liver, kidney, and intestine. ALPL plays a crucial role in bone mineralization and is involved in the regulation of phosphate metabolism. It catalyzes the hydrolysis of phosphate esters in an alkaline environment, leading to the release of inorganic phosphate. In bone tissue, ALPL is primarily expressed by osteoblasts, where it helps in the mineralization process by generating inorganic phosphate ions, which are essential for the formation of hydroxyapatite crystals, the main component of bone mineral. Deficiencies or mutations in the ALPL gene can lead to a rare genetic disorder known as hypophosphatasia (HPP). HPP is characterized by defective bone mineralization, resulting in weak and soft bones, skeletal abnormalities, and a range of other symptoms depending on the severity of the condition.