WFS1 Polyclonal Antibody, 20ul Cell Screening and Imaging This disease is characterized by

This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate

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The active site residues of carboxypeptidases A and B are conserved in this protein

Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lact

WFS1 Polyclonal Antibody, 20ul Cell Screening and Imaging This disease is characterized byThis gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system.