2024年12月24日 · ALPL (Alkaline Phosphatase, Biomineralization Associated) is a Protein Coding gene. Diseases associated with ALPL include Hypophosphatasia, Infantile and Hypophosphatasia, Childhood. Among its related pathways are Endochondral ossification with skeletal dysplasias and Metabolism of proteins.

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 and bone alkaline phosphatase.

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 phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue-nonspecific).

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 of bones and teeth. It is also active in many other tissues, particularly in the liver and kidneys.

The phosphatase, now called tissue-non-specific alkaline phosphatase (TNAP, or TNSALP), is encoded by the ALPL gene [4] expressed richly in bone, liver, and kidney, but also in the central nervous system, fibroblasts, and endothelial and other cell types.

2025年2月8日 · 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 liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1.

2023年10月26日 · This classification project and the ALPL gene variant database will serve the global medical community, widen the genotypic and phenotypic HPP spectrum by reporting and characterizing new ALPL variants based on ACMG/AMP criteria and thus facilitate improved genetic counseling and medical decision-ma …

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 liver/bone/kidney (tissue non-specific).

2025年2月8日 · 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 liver/bone/kidney (tissue non-specific).

2024年1月1日 · This classification project and the ALPL gene variant database will serve the global medical community, widen the genotypic and phenotypic HPP spectrum by reporting and characterizing new ALPL variants based on ACMG/AMP criteria and thus facilitate improved genetic counseling and medical decision-making for affected patients and families.