RCN2
Description
The RCN2 (reticulocalbin 2) is a protein-coding gene located on chromosome 15.
Reticulocalbin-2 is a protein encoded by the RCN2 gene in humans. It is a calcium-binding protein located in the lumen of the endoplasmic reticulum (ER). The protein contains six conserved regions with similarity to the EF-hand motif, which is known for high-affinity calcium binding. The RCN2 gene is located in the same region as the gene responsible for type 4 Bardet-Biedl syndrome, suggesting a potential role of reticulocalbin-2 in the development of this disorder.
RCN2 is also known as E6BP, ERC-55, ERC55, TCBP49.
Associated Diseases
- Brugada syndrome
- familial atrial fibrillation
- essential hypertension, genetic
- ventricular fibrillation, paroxysmal familial, type 1
- catecholaminergic polymorphic ventricular tachycardia
