ALPL
LOCUS ID249
GENE_SYMBOLALPL
GENE NAMEalkaline phosphatase, liver/bone/kidney
SYNONYMNSHOPS, TP, APTP, TNSALP, AP-TP
CHROMOSOME1
HOMOLOGENE ID37314
microRNAsNANA
GENE SUMMARY
This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatasesintestil, 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. Altertive 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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Urinary GGT and ALP have potential value in the diagnosis of nephropathy in type 2 diabetic patients, but GGT has a slightly higher ability to discriminate nephropathy than ALP.21527256