ALPK3
Function
Involved in cardiomyocyte differentiation.
Involvement in disease
Cardiomyopathy, familial hypertrophic, 27
CMH27
A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH27 is a severe, early-onset form with features of hypertrophic and dilated cardiomyopathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily.
Cellular localization
- Nucleus
Alternative names
KIAA1330, MAK, ALPK3, Alpha-protein kinase 3, Muscle alpha-protein kinase