Aliases for ALPL Gene
External Ids for ALPL Gene
Previous HGNC Symbols for ALPL Gene
Previous GeneCards Identifiers for ALPL Gene
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. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]
GeneCards Summary for ALPL Gene
ALPL (Alkaline Phosphatase, Biomineralization Associated) is a Protein Coding gene. Diseases associated with ALPL include Hypophosphatasia, Childhood and Hypophosphatasia, Infantile. Among its related pathways are AGE/RAGE pathway and Folate biosynthesis. Gene Ontology (GO) annotations related to this gene include phosphatase activity and alkaline phosphatase activity. An important paralog of this gene is ALPG.
UniProtKB/Swiss-Prot Summary for ALPL Gene
This isozyme plays a key role in skeletal mineralization by regulating levels of diphosphate (PPi).