Get Mc4R Deficiency
Guide. Mc4r is recognized as the major candidate gene for human obesity due to mc4r pivotal role. The synthetic melanocortin analog shu9119 has been widely used to characterize the physiological role of mc4r.
The synthetic melanocortin analog shu9119 has been widely used to characterize the physiological role of mc4r. The company plans to focus its development efforts on patients with potentially rescuable variants in the mc4r. Mc4r is recognized as the major candidate gene for human obesity due to mc4r pivotal role.
Mc4r deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.
The melanocortin (mc) system regulates feeding and ethanol consumption. In murine models mc4 receptors have been found to be involved in feeding behaviour. Mc4r deficiency disrupts hunger/satiety regulation resulting in abnormal eating behaviors. Mc4r deficiency information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
