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