2024年12月24日 · ALPL (Alkaline Phosphatase, Biomineralization Associated) is a Protein Coding gene. Diseases associated with ALPL include Hypophosphatasia, Infantile and …

2007年11月20日 · Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum …

Alkaline phosphatase, tissue-nonspecific isozyme (TNAP) is an enzyme that in humans is encoded by the ALPL gene. [5][6] There are at least four distinct but related alkaline …

The ALPL gene provides instructions for making an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP). This enzyme plays an important role in the growth and development …

Gene ID: 249, updated on 8-Feb-2025. This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, …

2023年10月26日 · In 2021, the ALPL gene variant classification project was established to reclassify VUS and continuously assess and update genetic, phenotypic, and functional …

The gene (ALPL) encoding tissue-nonspecific alkaline phosphatase (TNSALP) is expressed in bone (synthesized and secreted by the osteoblast), liver, kidney, and skin fibroblast. ALPL is a …

This gene encodes a member of the Alkaline Phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and …

2025年2月8日 · Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new …

2024年7月16日 · The ALPL gene variant database is an open-access archive for interpretation of the clinical significance of variants reported in ALPL. The database contains coding and non …