BDNF Human Recombinant Protein

This gene encodes a member of the nerve growth factor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. Binding of this protein to its cognate receptor promotes neuronal survival in the adult brain. Expression of this gene is reduced in Alzheimer's, Parkinson's, and Huntington's disease patients. This gene may play a role in the regulation of the stress response and in the biology of mood disorders. [provided by RefSeq, Nov 2015]

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: 11p13

Cellular Component: cytoplasm; extracellular region; perinuclear region of cytoplasm

Molecular Function: neurotrophin TRKB receptor binding

Biological Process: axon guidance; brain-derived neurotrophic factor receptor signaling pathway; cell-cell signaling; collateral sprouting; negative regulation of neuron apoptosis; nervous system development; positive regulation of brain-derived neurotrophic factor receptor signaling pathway; positive regulation of collateral sprouting; positive regulation of synaptogenesis; synaptogenesis

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