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CCM2 - CCM2 scaffold protein
- Synonym(s) : malcavernin, MGC4607, OSM, osmosensing scaffold for MEKK3
- Previous symbols and names : C7orf22, CCM2 scaffolding protein, cerebral cavernous malformation 2, chromosome 7 open reading frame 22
- Type : gene with protein product
- Chromosomal location : 7p13
- OMIM: 607929
- HGNC: 21708
- UniProtKB: Q9BSQ5
- Genatlas: CCM2
- Ensembl: ENSG00000136280
- IUPHAR-DB: -
- Reactome: -
- LOVD: CCM2
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Familial cerebral cavernous malformation
ORPHA:221061

Gene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
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