CMYA5
Description
The CMYA5 (cardiomyopathy associated 5) is a protein-coding gene located on chromosome 5.
CMYA5 may function as an anchoring protein, mediating the localization of protein kinase A (PKA) by binding to PRKAR2A. It may also act as a repressor of calcineurin-mediated gene expression, potentially by reducing calcineurin's ability to activate slow-fiber gene programs in muscle and negatively impacting skeletal muscle regeneration. CMYA5 is thought to play a role in assembling ryanodine receptor (RYR2) clusters in striated muscle.
CMYA5 is also known as C5orf10, SPRYD2, TRIM76.
Associated Diseases
- Brugada syndrome
- familial atrial fibrillation
- ventricular fibrillation, paroxysmal familial, type 1
- cardiomyopathy, dilated, 2I
- familial sick sinus syndrome
- arrhythmogenic right ventricular dysplasia 1
- long QT syndrome 12
- catecholaminergic polymorphic ventricular tachycardia
- catecholaminergic polymorphic ventricular tachycardia 4
- Brugada syndrome 1
- long QT syndrome 5
