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, Infantile and Hypophosphatasia, Childhood. Among its related pathways are NAD metabolism and NOTCH1 regulation of human endothelial cell calcification. Gene Ontology (GO) annotations related to this gene include phosphatase activity and alkaline phosphatase activity. An important paralog of this gene is ALPI.
UniProtKB/Swiss-Prot Summary for ALPL Gene
This isozyme plays a key role in skeletal mineralization by regulating levels of diphosphate (PPi).