Background:

This 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. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene.

Applications:

ELISA, IHC

Name of antibody:

WFS1

Immunogen:

Fusion protein of human WFS1

Full name:

Wolfram syndrome 1 (wolframin)

Synonyms:

WFS; WFRS; WFSL; CTRCT41

SwissProt:

O76024

ELISA Recommended dilution:

5000-10000

IHC positive control:

Human esophagus cancer and human tonsil

IHC Recommend dilution:

20-100