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Rabbit Anti-RNF170/FITC Conjugated antibody
background:
The ring finger is a specialized type of zinc finger of 40 to 60 residues that binds two atoms of zinc and mediates protein-protein interactions. There are five known isoforms of RNF170.
Function:
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.
Subunit:
Constitutively associated with the ERLIN1/ERLIN 2 complex. Interacts with activated ITPR1.
Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity).
Tissue Specificity:
Expressed in the spinal chord.
DISEASE:
Defects in RNF170 are the cause of ataxia, sensory, type 1, autosomal dominant (SNAX1) [MIM:608984]. 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).
Similarity:
Contains 1 RING-type zinc finger.
Database links:
Entrez Gene: 81790 Human
Entrez Gene: 77733 Mouse
SwissProt: Q96K19 Human
SwissProt: Q8CBG9 Mouse
Unigene: 696153 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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