Orphanet: CCM2 scaffold protein

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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

  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Health care resources for this gene

Specialised Social Services

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