WFS1 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	IHC
Recommend Dilution	IHC: 20-100 Positive control: Human esophagus cancer Predicted cell location: Cell membrane
Reactivity	Human, Mouse
Host	Rabbit
Clonality	Polyclonal
Immunogen	Fusion protein of human WFS1
Formulation	pH7.4 PBS, 0.05% NaN3, 40% Glycerol
Purification	Antigen affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20°C.
Gene Name	wolframin ER transmembrane glycoprotein
Database Link	Entrez Gene 7466 Human UniProt ID O76024
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.
Synonyms	DFNA6; DIDMOAD; FLJ51211; WFRS; WFS; wolframin
Reference Data

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