Human ring finger protein 170 ELISA Kit | RNF170 elisa kit
Human RING finger protein 170, RNF170 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
Uniprot Description
RNF170: E3 ubiquitin-protein ligase that plays an essential role in stimulus-induced inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) ubiquitination and degradation via the endoplasmic reticulum-associated degradation (ERAD) pathway. Also involved in ITPR1 turnover in resting cells. Defects in RNF170 are the cause of ataxia, sensory, type 1, autosomal dominant (SNAX1). A rare disease characterized by progressive ataxia caused by degeneration of the posterior columns of the spinal cord. Affected individuals have a reduced ability to feel pain, temperature and vibration, particularly in the hands and feet. Their most prominent feature is an ataxic gait resulting from a severe loss of proprioception. Thus, patients rely on visual cues for maintaining proper body posture, such that they are unable to remain upright if their eyes are closed (Romberg sign). 5 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Ubiquitin conjugating system
Chromosomal Location of Human Ortholog: 8p11.21
Cellular Component: endoplasmic reticulum membrane; integral to membrane
Molecular Function: zinc ion binding; ligase activity
Biological Process: protein ubiquitination
Disease: Ataxia, Sensory, 1, Autosomal Dominant
Research Articles on RNF170
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Product Notes
The Human RNF170 rnf170 (Catalog #AAA9340885) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9340885 ELISA Kit recognizes Human RNF170. It is sometimes possible for the material contained within the vial of "ring finger protein 170, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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