Gene ALPL
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Also known as
AP-TNAP, TNSALP, HOPSOverview
ALPL (Alkaline Phosphatase, Biomineralization Associated) encodes tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme essential for bone mineralization and vitamin B6 metabolism. TNSALP is expressed in bone, liver, kidney, and other tissues where it hydrolyzes phosphate compounds to support mineral deposition and cellular processes.Mutations in ALPL cause hypophosphatasia, a rare inherited disorder characterized by defective bone and tooth mineralization. The condition ranges from severe perinatal forms with life-threatening skeletal hypomineralization to mild adult-onset forms with stress fractures and dental abnormalities. Elevated pyridoxal 5'-phosphate (vitamin B6) levels are a hallmark biochemical finding in hypophosphatasia.
Understanding your ALPL genetic status is important for bone health assessment and can help explain abnormal alkaline phosphatase levels. Enzyme replacement therapy is now available for severe forms of hypophosphatasia. Dental health implications are particularly relevant for the dentistry report.