Human Leptin

This gene encodes a protein that is secreted by white adipocytes, and which plays a major role in the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis and wound healing. Mutations in this gene and/or its regulatory regions cause severe obesity, and morbid obesity with hypogonadism. This gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Jul 2008]

leptin: May function as part of a signaling pathway that acts to regulate the size of the body fat depot. An increase in the level of LEP may act directly or indirectly on the CNS to inhibit food intake and/or regulate energy expenditure as part of a homeostatic mechanism to maintain constancy of the adipose mass. Defects in LEP may be a cause of obesity (OBESITY). It is a condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. Belongs to the leptin family.

Protein type: Secreted; Cell development/differentiation; Hormone; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 7q31.3

Cellular Component: extracellular space; cytoplasm; extracellular region

Molecular Function: growth factor activity; peptide hormone receptor binding; hormone activity

Biological Process: circadian rhythm; response to dietary excess; positive regulation of myeloid cell differentiation; regulation of fat cell differentiation; regulation of steroid biosynthetic process; negative regulation of transcription from RNA polymerase II promoter; female pregnancy; glucose homeostasis; positive regulation of luteinizing hormone secretion; negative regulation of appetite; response to insulin stimulus; positive regulation of tyrosine phosphorylation of Stat3 protein; response to vitamin E; regulation of cholesterol absorption; positive regulation of MAPKKK cascade; regulation of blood pressure; positive regulation of cell proliferation; positive regulation of ion transport; central nervous system neuron development; placenta development; positive regulation of cytokine production; cholesterol metabolic process; positive regulation of developmental growth; eating behavior; bile acid metabolic process; glucose metabolic process; adult feeding behavior; ovulation from ovarian follicle; leptin-mediated signaling pathway; negative regulation of vasoconstriction; tyrosine phosphorylation of STAT protein; fatty acid beta-oxidation; insulin secretion; glycerol biosynthetic process; energy reserve metabolic process; response to hypoxia; hormone metabolic process; regulation of gluconeogenesis; positive regulation of follicle-stimulating hormone secretion; positive regulation of insulin receptor signaling pathway; leukocyte tethering or rolling; regulation of insulin secretion; negative regulation of apoptosis

Disease: Leptin Deficiency