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Rabbit Anti-Bone Alkaline Phosphatase/FITC Conjugated antibody
background:
Defects in ALPL are a cause of hypophosphatasia (HOPS) . 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.
Function:
This isozyme may play a role in skeletal mineralization.
Subunit:
Homodimer.
Subcellular Location:
Cell membrane; Lipid-anchor, GPI-anchor.
Post-translational modifications:
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).
Defects in ALPL are a cause of hypophosphatasia childhood type (HOPSC) [MIM:241510].
Defects in ALPL are a cause of hypophosphatasia infantile type (HOPSI) [MIM:24300].
Similarity:
Belongs to the alkaline phosphatase family.
Database links:
Entrez Gene: 249 Human
Entrez Gene: 11647 Mouse
Entrez Gene: 25586 Rat
Omim: 171760 Human
SwissProt: P05186 Human
SwissProt: P09242 Mouse
SwissProt: P08289 Rat
Unigene: 75431 Human
Unigene: 288186 Mouse
Unigene: 82764 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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