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GENATLAS PHENOTYPE
last update : 28-069-2010
Symbol HOMG2
Location 11q23.3
Name renal hypomagnesemia, 2
Other name(s)
  • magnesium wasting, renal
  • magnesium loss, isolated renal
  • Corresponding gene FXYD2
    Other symbol(s) RHPM
    Main clinical features hypocalciuria, associated or not with tetany and convulsions
    Genetic determination autosomal dominant
    Function/system disorder kidney and urinary tract
    Type disease
    Gene product
    Name FXYD domain-containin ion transport regulator 2
    Remark(s) . binding of FXYD2-G41R to wild type FXYD2 subunit might abrogate the routing of wild type FXYD2 to the plasma membrane thus causing the dominant nature of this mutation (Cairo 2008)