Adenylyl cyclase-associated protein 2
Function
Involved in the regulation of actin polymerization.
Involvement in disease
Cardiomyopathy, dilated, 2I
CMD2I
A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2I is an autosomal recessive, severe form characterized by onset in infancy or childhood.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the CAP family.
Cellular localization
- Cell membrane
- Peripheral membrane protein
Alternative names
Adenylyl cyclase-associated protein 2, CAP 2, CAP2