MC4R across dismech

MC4R (melanocortin 4 receptor) is named by 2 disorder entries.

Causative records

One entry types MC4R as causative: Obesity Due to MC4R Pathway Disruption, recording the variants as germline. There the gene sits on the node MC4R pathway signaling failure.

Risk factor record

The common-disease Obesity entry types MC4R as a risk factor rather than a cause, placing it on Hypothalamic Dysregulation.

Normal function

The ai-gene-review snapshot that this page's ingest layer is pinned to has no core functions for MC4R (0 terms). A full MC4R review, giving melanocyte-stimulating hormone receptor activity acting in adenylate cyclase-activating G protein-coupled receptor signalling and negative regulation of appetite, has since been written upstream and will appear here when the ingest layer is refreshed.

Where the layers disagree

ClinGen has classified MC4R for 0 diseases. The KB nodes naming MC4R are annotated with adenylate cyclase-activating G protein-coupled receptor signaling pathway; and feeding behavior, and with the pinned review empty the two layers share 0 process terms. The first of those KB terms is the same signalling process the upstream review now gives as MC4R's core process.