| PHACTR1 |
| LOCUS ID | 221692 | ||||||||||
| GENE_SYMBOL | PHACTR1 | ||||||||||
| GENE NAME | phosphatase and acti | ||||||||||
| SYNONYMNS | RPEL, RPEL1, dJ257A7.2 | ||||||||||
| CHROMOSOME | 6 | ||||||||||
| HOMOLOGENE ID | 33597 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, corory artery disease and cervical artery dissection. Altertive splicing of this gene results in multiple transcript variants. [provided by RefSe |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Cardiovascular | 1. Because PHACTR1 SNPs are not associated with the traditional risk factors for CAD/MI (eg, blood lipids or pressure, diabetes mellitus), our suggest that PHACTR1 may influence CAD/MI risk through as yet unknown mechanisms in the vascular endothelium. | 25838425 |