CCM2
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | CCM2 |
| GeneCards | CCM2 |
| Diseases | CCM2 |
| wikipedia | CCM2 |
| CCM2 | |
| gopubmed | CCM2 |
| EVS | CCM2 |
| HEFalMp | CCM2 |
| MyGene2 | CCM2 |
| 23andMe | CCM2 |
| # SNPs | 10 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i5005677 | |||
| rs1057520070 | 0 | 45,038,342 | |
| rs137852841 | 6.7 | 45,064,493 | |
| rs137852842 | 5.2 | 45,000,334 | |
| rs137852843 | 6.7 | 45,068,563 | |
| rs2107732 | 0 | 45,038,379 | |
| rs755800734 | 5.2 | 45,038,277 | |
| rs765548101 | 5.2 | 45,064,528 | |
| rs797044623 | 6.7 | 45,000,368 | |
| rs886041157 | 0 | 45,063,927 |
The CCM2 gene provides instructions for making a protein called malcavernin, which strengthens the interactions between cells that form blood vessels and limits leakage from the vessels. Dozens of mutations in the CCM2 gene have been identified in families with cerebral cavernous malformation, which can cause health problems such as headaches, seizures, and bleeding in the brain (cerebral hemorrhage) in some people.GHR
Mutations in the CCM2 gene are involved in approximately 15 percent of all familial cerebral cavernous malformation cases.GHR
