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Contact yves@www.debelle.mcgill.ca
PHEXdb is a relational locus-specific database for mutations in the PHEX gene. The latter are responsible for X-linked hypophosphatemia (XLH) (OMIM 307800), a dominant disorder of phosphate homeostasis characterized by growth retardation, rachitic and osteomalacic bone disease, hypophosphatemia, and renal defects in the reabsorption of filtered phosphate and the metabolism of vitamin D. Upon its creation in April 1999, PHEXdb listed 86 mutations. As of October 2000, a total of 141 different mutations in the PHEX gene have been entered. PHEXdb allows online access where users can search the database by mutation, which includes name and type of mutation, and codon name; by phenotype, which includes inheritance (X-linked or sporadic) and clinical and biochemical phenotype; and by authors who published or submitted mutations. PHEXdb also provides a submission form that will allow newly identified mutations in the PHEX gene to be added to the database. The PHEXdb homepage includes links to information pages such as the Online Mendelian Inheritance in Man (http://www.ncbi.nlm.nih.gov/Omim) and the Vitamin D and Rickets webpage (http://georgia.ncl.ac.uk/VitaminD/vitaminD.html), and references to publications on PHEX, XLH and mouse homologues (Hyp and Gy). PHEXdb serves as a communication link between researchers whose goal it is to elucidate PHEX function and define its role in pathogenesis of XLH. This resource will help to document genotype/phenotype correlations. Moreover, once an assay is available to measure catalytic activity of the PHEX protein, PHEXdb will provide some insight into PHEX structure-function relationships.
Category Mutation Databases
