FXYD2 Polyclonal Antibody

disease:Defects in FXYD2 are the cause of hypomagnesemia type 2 (HOMG2) [MIM:154020]; also known as dominant renal hypomagnesemia or hypomagnesemia with hypocalciuria. HOMG2 is a disorder due to primary renal wasting of magnesium. Plasma levels of other electrolytes are normal. The only abnormality found, in addition to low magnesium levels, is lowered renal excretion of calcium resulting in hypocalciuria.,function:May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase.,sequence caution:Wrong choice of frame.,similarity:Belongs to the FXYD family.,subunit:Composed of three subunits: alpha (catalytic), beta and gamma.,tissue specificity:Expressed in the distal convoluted tubule in the kidney. Found on basolateral membranes of nephron epithelial cells.,