ACYP2
Acylphosphatase-2 (ACYP2) is an enzyme which controls the transport of ions across the cell membrane of muscle cells, and is encoded for by the ACYP2 gene. The exact role of ACYP2 in physiology is poorly understood, but it is known to control the transport of calcium and magnesium ions across the cell membrane of muscle cells, including those of the heart. It is thought to degrade calcium and magnesium importing proteins before they can complete their action limiting the import of calcium and magnesium into the cell 1. The effect of this reduction of calcium and magnesium in cells is unknown.
There is one SNP within ACYP2 which is associated with poor health outcomes; rs11125529 or C186-55959A.
| rsID Number | Major Allele | Minor Allele | Minor Allele Frequency (%) |
|---|---|---|---|
| rs11125529 | c | a | 13 |
Risk Description
The risk ‘C’ allele of C186-55959A in the ACYP2 gene is associated with an increased stroke risk in Chinese populations 2, it is not known if this is a global association.
The authors don not describe a mechanism to link the risk ‘C’ allele with an increased stroke risk; however, given our current lack of understanding about ACYP2 function in general this is not surprising.
Discuss this information with your doctor before taking any course of action.