Gene: LEPR

Alternate names for this Gene: CD295|LEP-R|LEPRD|OB-R|OBR

Gene Summary: 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).

Gene is located in Chromosome: 1

Location in Chromosome : 1p31.3

Description of this Gene: leptin receptor

Type of Gene: protein-coding

Gene: LEPROT

Alternate names for this Gene: LEPR|OB-RGRP|OBRGRP|VPS55

Gene Summary: LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby altering receptor-mediated cell signaling (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009 [PubMed 19907080]).[supplied by OMIM, Jul 2010].

Gene is located in Chromosome: 1

Location in Chromosome : 1p31.3

Description of this Gene: leptin receptor overlapping transcript

Type of Gene: protein-coding