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Protein: PPBT_HUMAN

Alkaline phosphatase, tissue-nonspecific isozyme

FUNCTION: This isozyme may play a role in skeletal mineralization. CATALYTIC ACTIVITY: A phosphate monoester + H(2)O = an alcohol + phosphate. COFACTOR: Binds 1 magnesium ion (By similarity). COFACTOR: Binds 2 zinc ions (By similarity). more...

SUBUNIT: Homodimer.

SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.

PTM: Glycosylated.

DISEASE: Defects in ALPL are a cause of hypophosphatasia (HOPS) [MIM:146300]. HOPS is an inherited metabolic bone disease characterized by defective skeletal mineralization. Four hypophosphatasia forms are distinguished, depending on the age of onset: perinatal, infantile, childhood and adult type. The perinatal form is the most severe and is almost always fatal. Patients with only premature loss of deciduous teeth, but with no bone disease are regarded as having odontohypophosphatasia (odonto).

DISEASE: Defects in ALPL are a cause of hypophosphatasia childhood type (HOPSC) [MIM:241510].

DISEASE: Defects in ALPL are a cause of hypophosphatasia infantile type (HOPSI) [MIM:241500].

SIMILARITY: Belongs to the alkaline phosphatase family.

SEQUENCE CAUTION: Sequence=BAD93051.1; Type=Erroneous initiation; WEB RESOURCE: Name=ALPL; Note=Tissue nonspecific alkaline phosphatase gene mutations database; URL="http://www.sesep.uvsq.fr/Database.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALPL"; WEB RESOURCE: Name=Wikipedia; Note=Alkaline phosphatase entry; URL="http://en.wikipedia.org/wiki/Alkaline_phosphatase";

COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.

 

Organism:

  • Homo sapiens

Gene Symbol:

  • ALPL

Synonyms:

  • AP-TNAP
  • 3.1.3.1
  • TNSALP
  • Alkaline phosphatase liver/bone/kidney isozyme

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