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; Cytokine; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 2 E3|2 56.63 cM
Cellular Component: axon; cell soma; cytoplasm; cytoplasmic vesicle; dendrite; extracellular region; extracellular space; mitochondrial crista; mitochondrion; nuclear speck; perikaryon; perinuclear region of cytoplasm; secretory granule; synaptic vesicle; terminal bouton
Molecular Function: growth factor activity; neurotrophin TRKB receptor binding; protein binding; receptor binding
Biological Process: axon extension; axon guidance; axon target recognition; behavioral fear response; circadian rhythm; collateral sprouting; dendrite development; excitatory postsynaptic potential; fear response; feeding behavior; gamma-aminobutyric acid signaling pathway; glutamate secretion; inhibitory postsynaptic potential; inner ear development; learning; learning and/or memory; mechanoreceptor differentiation; mitochondrial electron transport, NADH to ubiquinone; negative regulation of apoptosis; negative regulation of neuroblast proliferation; negative regulation of neuron apoptosis; negative regulation of striated muscle tissue development; negative regulation of synaptic transmission, GABAergic; nerve development; nervous system development; neuron recognition; positive regulation of axon extension; positive regulation of collateral sprouting; positive regulation of long-term neuronal synaptic plasticity; positive regulation of neuron differentiation; positive regulation of peptidyl-serine phosphorylation; positive regulation of synaptogenesis; positive regulation of transcription factor activity; regeneration; regulation of axon extension; regulation of collateral sprouting; regulation of long-term neuronal synaptic plasticity; regulation of metabolic process; regulation of neuron apoptosis; regulation of retinal cell programmed cell death; regulation of short-term neuronal synaptic plasticity; regulation of synaptic plasticity; response to drug; synaptogenesis; transmembrane receptor protein tyrosine kinase signaling pathway; ureteric bud development
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