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WFS1 rabbit pAb

WFS1 rabbit pAb

ENT-A11181

Description

 

 

 

REF ENT-A11181
Category Antibody Polyclonal
Description WFS1 rabbit pAb
Source Rabbit
Applications WB;ELISA
Reactivity Human;Mouse
Reactivity Human;Mouse
Dilution WB 1:500-2000 ELISA 1:5000-20000
Immunogen Synthesized peptide derived from part region of human protein
Storage Stability -20°C/1 year
Clonality Polyclonal
Isotype IgG
Concentration 1 mg/ml
Observed Band KD 97kD
Human Gene ID 7466
Human Swiss Prot Nº O76024
Subcellular Location Endoplasmic reticulum membrane ; Multi-pass membrane protein . Cytoplasmic vesicle, secretory vesicle . Co-localizes with ATP6V1A in the secretory granules in neuroblastoma cell lines. .

Other Name:

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. [provided by RefSeq, Mar 2009],