leptin receptor

Symbol

LEPR (may also be known as: None)

Organism

Human

Description

The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0006112 energy reserve metabolic process biological_process
GO:0007166 cell surface receptor linked signaling pathway biological_process
GO:0007275 multicellular organismal development biological_process
GO:0008203 cholesterol metabolic process biological_process
GO:0051346 negative regulation of hydrolase activity biological_process
GO:0005576 extracellular region cellular_component
GO:0005886 plasma membrane cellular_component
GO:0016021 integral to membrane cellular_component
GO:0004872 receptor activity molecular_function
GO:0004888 transmembrane signaling receptor activity molecular_function
GO:0004896 cytokine receptor activity molecular_function
GO:0005515 protein binding molecular_function