BDNF Human Active Protein

The protein encoded by this gene is a member of the nerve growth factor family. It is induced by cortical neurons, and is necessary for survival of striatal neurons in the brain. Expression of this gene is reduced in both Alzheimer's and Huntington disease patients. This gene may play a role in the regulation of stress response and in the biology of mood disorders. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jan 2009]

BDNF: During development, promotes the survival and differentiation of selected neuronal populations of the peripheral and central nervous systems. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS. The versatility of BDNF is emphasized by its contribution to a range of adaptive neuronal responses including long-term potentiation (LTP), long-term depression (LTD), certain forms of short-term synaptic plasticity, as well as homeostatic regulation of intrinsic neuronal excitability. Defects in BDNF are a cause of congenital central hypoventilation syndrome (CCHS); also known as congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. CCHS is frequently complicated with neurocristopathies such as Hirschsprung disease that occurs in about 16% of CCHS cases. Belongs to the NGF-beta family. 5 isoforms of the human protein are produced by alternative promoter.

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

Chromosomal Location of Human Ortholog: 11p13

Cellular Component: extracellular space; mitochondrial crista; synaptic vesicle; perinuclear region of cytoplasm; cytoplasm; cytoplasmic membrane-bound vesicle; dendrite; extracellular region; terminal button; perikaryon

Molecular Function: growth factor activity; neurotrophin TRKB receptor binding

Biological Process: circadian rhythm; axon guidance; mechanoreceptor differentiation; behavioral fear response; mitochondrial electron transport, NADH to ubiquinone; regulation of neuron differentiation; axon extension; response to hormone stimulus; positive regulation of long-term neuronal synaptic plasticity; response to vitamin A; negative regulation of neuroblast proliferation; ureteric bud development; dendrite development; regulation of retinal cell programmed cell death; feeding behavior; negative regulation of neuron apoptosis; negative regulation of synaptic transmission, GABAergic; response to electrical stimulus; inner ear development; response to food; nervous system development; chronic inflammatory response; response to light intensity; neuron recognition; regulation of axon extension; learning; regulation of short-term neuronal synaptic plasticity; negative regulation of striated muscle development; positive regulation of peptidyl-serine phosphorylation; positive regulation of synaptogenesis; response to hyperoxia; axon target recognition; glutamate secretion; response to hypoxia; response to fluoxetine; nerve development; response to activity; positive regulation of neuron differentiation; regulation of excitatory postsynaptic membrane potential; neurite morphogenesis; transmembrane receptor protein tyrosine kinase signaling pathway; gamma-aminobutyric acid signaling pathway

Disease: Obsessive-compulsive Disorder; Bulimia Nervosa, Susceptibility To, 1; Bulimia Nervosa, Susceptibility To, 2; Central Hypoventilation Syndrome, Congenital