Ontology highlight
ABSTRACT:
SUBMITTER: Winget MD
PROVIDER: S-EPMC7073882 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Winget Marshall D MD Ericson Mark D MD Freeman Katie T KT Haskell-Luevano Carrie C
ACS medicinal chemistry letters 20190702 3
The melanocortin receptors are stimulated by agonists (α-MSH, β-MSH, γ-MSH, and ACTH) processed from the proopiomelanocortin (POMC) gene transcript and possess a common His-Phe-Arg-Trp tetrapeptide sequence critical for receptor activation. Deficiency in POMC signaling in humans is associated with adrenal insufficiency, altered pigmentation, and rapid, early onset weight gain. Herein, 12 single nucleotide polymorphisms (SNPs) deposited into the Variation Viewer database within the His-Phe-Arg-Tr ...[more]