In humans, mutations in the SLC12A6 gene are generally associated with neuropathy (Bogdanova-Mihaylova et al., 2021), but there is no known connection between mutations in this gene and obesity-related traits, except for one genome-wide association study signal for BMI (Dong et al., 2018). The gene discussed is SLC12A6; the disease is obesity due to melanocortin 4 receptor deficiency.