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WFS1 Polyclonal Antibody, 20ul Cell Screening and Imaging Mutations in this gene are

SKU: 6746892857

4.2
PLN97.20 PLN136.20

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WFS1 Polyclonal Antibody, 20ul Cell Screening and Imaging Mutations in this gene areThis 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.

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Description

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

which may be important for the cellular response to DNA damage

It is not active until the last two amino acids of the carboxy-terminus have been cleaved off

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

Melanoma inhibitory activity (cartilage-derived retinoic acid-sensitive protein (CD-RAP)

WFS1 Polyclonal Antibody, 20ul Cell Screening and Imaging Mutations in this gene areThis 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.

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