ENPP1
MIM.173335 6q22-q23
Pathology
germline mutations in
- idiopathic infantile arterial calcification (MIM.208000)
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#