Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

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 mutation	Chromosome rearrangement	Effect	Comments
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))