Alkaline phosphatase, Liver

Alternative Names

  • ALPL
  • Alkaline phosphatase, Liver/Bone/Kidney Type
  • Alkaline phosphatase, Tissue-Nonspecific
  • TNSALP
  • TNAP

Associated Diseases

Hypophosphatasia, Infantile
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OMIM Number

171760

NCBI Gene ID

249

Uniprot ID

P05186

Length

69,431 bases

No. of Exons

14

No. of isoforms

3

Protein Name

Alkaline phosphatase, tissue-nonspecific isozyme

Molecular Mass

57305 Da

Amino Acid Count

524

Genomic Location

chr1:21,508,982-21,578,412

Gene Map Locus
1p36.12

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000478.6:c.1064T>CEgyptNC_000001.11:g.21575799T>CLikely PathogenicHypophosphatasia, InfantileNG_008940.1:g.71435T>C; NM_000478.6:c.1064T>C; NP_000469.3:p.Met355Thr
NM_000478.6:c.1540G>AUnited Arab EmiratesNC_000001.11:g.21577613G>AUncertain SignificanceUncertain SignificanceHypophosphatasia, InfantileNG_008940.1:g.73249G>A; NM_000478.6:c.1540G>A; NP_000469.3:p.Ala514Thr367657406554421
NM_000478.6:c.407G>AUnited Arab EmiratesNC_000001.11:g.21563219G>ALikely Pathogenic, PathogenicPathogenicHypophosphatasia, InfantileNG_008940.1:g.58855G>A; NM_000478.6:c.407G>A; NP_000469.3:p.Arg136His12191801113675
NM_000478.6:c.449T>GLebanonchr1:21563261Likely PathogenicHypophosphatasia, InfantileNG_008940.1:g.58897T>G; NM_000478.6:c.449T>G; NP_000469.3:p.Ile150Ser1553412351
NM_000478.6:c.668G>ALebanonNC_000001.11:g.21568123G>APathogenicLikely PathogenicHypophosphatasia, InfantileNG_008940.1:g.63759G>A; NM_000478.6:c.668G>A; NP_000469.3:p.Arg223Gln199665722381586
NM_000478.6:c.815G>TEgyptNC_000001.11:g.21570327G>TPathogenicPathogenicHypophosphatasia, InfantileNG_008940.1:g.65963G>T; NM_000478.6:c.815G>T; NP_000469.3:p.Arg272Leu7812723861457567
NM_000478.6:c.874C>TEgyptNC_000001.11:g.21573676C>TLikely PathogenicHypophosphatasia, InfantileNG_008940.1:g.69312C>T; NM_000478.6:c.874C>T; NP_000469.3:p.Pro292Ser765458125
NM_000478.6:c.977G>TSaudi ArabiaNC_000001.11:g.21573779G>TLikely PathogenicHypophosphatasia, InfantileNG_008940.1:g.69415G>T; NM_000478.6:c.977G>T; NP_000469.3:p.Gly326Val745830614
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