Molecular Analysis and Conformational Dynamics of Human MC4R Disease-Causing Mutations.

ABSTRACT: Obesity is a chronic disease with increasing cases among children and adolescents. Melanocortin 4 receptor (MC4R) is a G protein-coupled transporter involved in solute transport, enabling it to maintain cellular homeostasis. MC4R mutations are associated with early-onset severe obesity, and the identification of potential pathological variants is crucial for the clinical management of patients with obesity. A number of mutations have been reported in MC4R that are responsible for causing obesity and related complications. Delineating these mutations and analyzing their effect on MC4R's structure will help in the clinical intervention of the disease condition as well as designing potential drugs against it. Sequence-based pathogenicity and structure-based protein stability analyses were con

SUBMITTER: Fatima MT 

PROVIDER: S-EPMC9268210 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature