Fig. 1.

Genetic variation in MBOAT7 is associated with diverse liver diseases and neurodevelopmental disorders. A: Genetic structure of the MBOAT7 locus including the first exon of the neighboring gene transmembrane channel 4 (TMC4). The common rs641738 SNP (C>T) associated with diverse liver diseases including non-NAFLD is in close proximity to the 3′-untranslated region (3′-UTR) of MBOAT7 but actually resides in exon 1 of the TMC4 gene. B: Several functionally null mutations in MBOAT7 have been associated with severe intellectual disability, epilepsy, and autistic features (Online Mendelian Inheritance in Man: 606048). Variants are indicated by red arrows.