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Gene : ALPL Homo sapiens

Name  ? alkaline phosphatase, biomineralization associated Cytological Location  1p36.12
Brief Description  alkaline phosphatase, liver/bone/kidney
description  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]
  • synonyms:
  • BC021289,
  • HOPS,
  • HOPS,
  • OTTHUMG00000002949,
  • alkaline phosphatase, liver/bone/kidney,
  • HGNC:438,
  • TNSALP,
  • TNALP,
  • TNSALP,
  • APTNAP,
  • ALPL,
  • tissue non-specific alkaline phosphatase,
  • TNAP,
  • AP-TNAP,
  • TNALP,
  • uc001bet.4,
  • NM_000478,
  • TNAP
  • identifiers:
  • 249,
  • ENSG00000162551,
  • ALPL

Genome feature

Region: gene ? Length: 69431  
Location: 1:21508982-21578412 Cyto location: 1p36.12


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Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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255 SN Ps

5 Cross References

20 Data Sets

21 Homologues

0 Located Features

90 Rna Seq Results