Home
>
Product
>
Antibody
>
Rabbit Anti-Torsin B/FITC Conjugated antibody
background:
TorsinB is a 336 amino acid protein that localizes to the lumen of endoplasmic reticulum and belongs to the Torsin family. Expressed in a variety of tissues with particularly high levels in adult brain, TorsinB is thought to function as a molecular chaperone that assists in the conformational folding of membrane and secreted proteins. Via its ability to regulate protein folding, TorsinB plays a key role in postnatal developmental events and is essential for proper neurological development. TorsinB contains two PKC (protein kinase C) phosphorylations sites, one ATP binding domain and several conserved cysteines and shares 69% amino acid identity with TorsinA, a related family member. Defects in the gene encoding TorsinB are associated with torsion dystonia, an autosomal dominant neurological disorder that is characterized by debilitating muscle contractions throughout the body.
Function:
Torsins are members of the AAA(+) superfamily of ATPases and are present in all multicellular organisms. Torsin B is an ER protein involved implicated in neurogenesis, neuronal migration, axon/dendrite development and synaptogenesis.
Subcellular Location:
Endoplasmic reticulum and nuclear envelope
Tissue Specificity:
Widely expressed with low levels in brain. Not detected in fetal brain.
Similarity:
Belongs to the clpA/clpB family. Torsin subfamily.
Database links:
Entrez Gene: 27348 Human
Entrez Gene: 30934 Mouse
Omim: 608050 Human
SwissProt: O14657 Human
SwissProt: Q9ER41 Mouse
Unigene: 252682 Human
Unigene: 249164 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|