LEPR/CD295 (LEPR) Active Protein

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]

LEPR: the receptor for leptin (obesity factor). A single-transmembrane-domain receptor of the cytokine receptor family. On ligand binding, mediates signaling through JAK2/STAT3. Involved in the regulation of fat metabolism and, in a hematopoietic pathway, required for normal lymphopoiesis. May play a role in reproduction. Five alternatively spliced transcript variants have been reported.

Protein type: Membrane protein, integral; Receptor, cytokine

Chromosomal Location of Human Ortholog: 1p31

Cellular Component: plasma membrane; extracellular region; integral to membrane; receptor complex

Molecular Function: hematopoietin/interferon-class (D200-domain) cytokine receptor activity; identical protein binding; protein binding; transmembrane receptor activity

Biological Process: cholesterol metabolic process; cell surface receptor linked signal transduction; negative regulation of hydrolase activity; negative regulation of gluconeogenesis; multicellular organismal development; cytokine and chemokine mediated signaling pathway; energy reserve metabolic process

Disease: Leptin Receptor Deficiency