S12A1 Rabbit Polyclonal Antibody, 100ul Insect Expression autosomal dominant progressive external ophthalmoplegia-5

autosomal dominant progressive external ophthalmoplegia-5

This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form

This gene encodes a member of the myosin superfamily

MX dynamin like GTPase 2 encoded by MX2 has a nuclear and a cytoplasmic form and is a member of both the dynamin family and the family of large GTPases

S12A1 Rabbit Polyclonal Antibody, 100ul Insect Expression autosomal dominant progressive external ophthalmoplegia-5This gene encodes a kidney specific sodium potassium chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter like syndromes result from defects in this gene. Alternative splicing results