免疫原
Synthesized peptide derived from human FXYD2 AA range: 10-90
特异性
This antibody detects endogenous levels of human FXYD2
组成(Formulation)
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
稀释比例
IHC-p 1:50-200, ELISA(peptide)1:5000-20000
纯化工艺(Immunogen)
The antibody was affinity-purified from mouse ascites by affinity-chromatography using specific immunogen.
背景(Background)
FXYD domain containing ion transport regulator 2(FXYD2) Homo sapiens This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associated with Renal Hypomagnesemia-2. Alternatively spliced transcript variants have been described. Read-through transcripts have been observed between this locus and the upstream FXYD domain-containing ion transport regulator 6 (FXYD6, GeneID 53826) locus.[provided by RefSeq, Feb 2011],
功能
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.,