Orphanet: proline rich transmembrane protein 2
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PRRT2 - proline rich transmembrane protein 2

  • Synonym(s) : dispanin subfamily B member 3, DKFZp547J199, DSPB3, EKD1, FICCA, FLJ25513, IFITMD1, Interferon induced transmembrane protein domain containing 1, PKC
  • Previous symbols and names : DYT10, ICCA, dystonia 10, infantile convulsions and paroxysmal choreoathetosis, proline-rich transmembrane protein 2
  • Type : gene with protein product
  • Chromosomal location : 16p11.2
  • OMIM: 614386
  • HGNC: 30500
  • UniProtKB: Q7Z6L0
  • Genatlas: PRRT2
  • Ensembl: ENSG00000167371
  • IUPHAR-DB: -
  • Reactome: -
  • LOVD: PRRT2

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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