LEPR, Official Symbol LEPRprovided by HGNC Official Full Name leptin receptorprovided by HGNC Primary source HGNC:HGNC:6554 See related Ensembl:ENSG00000116678 MIM:601007; AllianceGenome:HGNC:6554 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OBR; OB-R; CD295; LEP-R; LEPRD 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).[provided by RefSeq, Nov 2010] Expression Ubiquitous expression in liver (RPKM 22.2), endometrium (RPKM 12.0) and 23 other tissues See more Orthologs mouse all