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: Cell development/differentiation; Secreted; Secreted, signal peptide; Cytokine
Chromosomal Location of Human Ortholog: 11p13
Cellular Component: cytoplasm; cytoplasmic membrane-bound vesicle; extracellular region; perinuclear region of cytoplasm
Molecular Function: growth factor activity; neurotrophin TRKB receptor binding
Biological Process: axon extension; axon guidance; axon target recognition; behavioral fear response; brain-derived neurotrophic factor receptor signaling pathway; cell-cell signaling; collateral sprouting; dendrite development; feeding behavior; gamma-aminobutyric acid signaling pathway; glutamate secretion; inner ear development; learning and/or memory; mechanoreceptor differentiation; negative regulation of neuroblast proliferation; negative regulation of neuron apoptosis; negative regulation of synaptic transmission, GABAergic; nerve development; nervous system development; neuron recognition; positive regulation of brain-derived neurotrophic factor receptor signaling pathway; positive regulation of collateral sprouting; positive regulation of synaptogenesis; regulation of inhibitory postsynaptic membrane potential; regulation of metabolic process; regulation of retinal cell programmed cell death; regulation of synaptic plasticity; response to drug; synaptogenesis; ureteric bud development
Disease: Bulimia Nervosa, Susceptibility To, 1; Bulimia Nervosa, Susceptibility To, 2; Central Hypoventilation Syndrome, Congenital; Obsessive-compulsive Disorder
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