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GENATLAS PHENOTYPE
last update : 07-12-2016
Symbol HOPS1
Location 1p36.1
Name hypophosphatasia 1
Corresponding gene ALPL
Main clinical features
  • infantile, variable expression from lethal dwarfism with poorly mineralized skeleton to mild osteopenia, with tooth mineralization defects, and with pathologic skeletal fractures which develop in late adulthood only, characterizing six clinical forms, with alkaline phosphatase deficiency
  • Genetic determination autosomal recessive
    autosomal dominant
    Prevalence severe forms 1/100000
    Related entries . including childhood form (OMIM 241510) and autosomal dominant adult form (OMIM146300)
    Function/system disorder osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mostly missense mutations, or variant N153D suppressing mature ALPL at the cell surface in perinatal hypophosphatasia, in the crown domain or in the calcium-binding domain
    Remark(s)
  • glycine AA at position 420 is crucial for the subunit interaction of ALPL and hence its catalytic function without affecting trafficking of monomeric ALPL, and dimerization defect is the molecular basis for perinatal HOPS1 associated with the genotype G420S/G420S (PMID: 23039266))