Synthesized peptide derived from part region of human protein
Storage:
-20°C/1 year
Clonality:
Polyclonal
Isotype:
IgG
Concentration:
1 mg/ml
Observed Band:
97kD
GeneID:
7466
Human Swiss-Prot No:
O76024
Cellular localization:
Endoplasmic reticulum membrane ; Multi-pass membrane protein . Cytoplasmic vesicle, secretory vesicle . Co-localizes with ATP6V1A in the secretory granules in neuroblastoma cell lines. .
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],
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