Article
EIF3G is associated with narcolepsy across ethnicities.
European journal of human genetics : EJHG - 1 Nov 2015
Holm Anja, Lin Ling, Faraco Juliette, Mostafavi Sara, Battle Alexis, Zhu Xiaowei, Levinson Douglas F, Han Fang, Gammeltoft Steen, Jennum Poul, Mignot Emmanuel, Kornum Birgitte R
Abstract excerpt
Type 1 narcolepsy, an autoimmune disease affecting hypocretin (orexin) neurons, is strongly associated with HLA-DQB1*06:02. Among polymorphisms associated with the disease is single-nucleotide polymorphism rs2305795 (c.*638G>A) located within the P2RY11 gene. P2RY11 is in a region of synteny conserved in mammals and zebrafish containing PPAN, EIF3G and DNMT1 (DNA methyltransferase 1). As mutations in DNMT1 cause...
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