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ENPP1

MIM.173335 6q22-q23

Wednesday 8 March 2006

Pathology

- germline mutations in

- Variants of ENPP1 associated with:

  • childhood obesity
  • adult obesity
  • increase risk of glucose intolerance and type 2 diabetes

References

- Meyre D, Bouatia-Naji N, Tounian A, Samson C, Lecoeur C, Vatin V, Ghoussaini M, Wachter C, Hercberg S, Charpentier G, Patsch W, Pattou F, Charles MA, Tounian P, Clement K, Jouret B, Weill J, Maddux BA, Goldfine ID, Walley A, Boutin P, Dina C, Froguel P. Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes. Nat Genet. 2005 Aug;37(8):863-7. PMID: 16025115