BDNF est un gène codé par le symbole BDNF. D'autres noms incluent: Brain-derived neurotrophic factor; Abrineurin. BDNF a une masse de 27.82kDa, une longueur d'acide aminé de 247, et est impliqué dans Congenital central hypoventilation syndrome.
Nous proposons 5 BDNF protéines
Informations sur les Gènes et les Protéines
Résumé UniProt
Important signaling molecule that activates signaling cascades downstream of NTRK2 (PubMed:11152678). 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.
Résumé Entrez
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.
Spécificité tissulaire
Detected in blood plasma and in saliva (at protein level) (PubMed:11152678, PubMed:19467646). Brain. Highly expressed in hippocampus, amygdala, cerebral cortex and cerebellum. Also expressed in heart, lung, skeletal muscle, testis, prostate and placenta.
Implication dans la maladie
Congenital central hypoventilation syndrome: 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.
Similitudes de séquence
Belongs to the NGF-beta family.
Modification post-traductionnelle
N-glycosylated and glycosulfated, contrary to mature BDNF.
Localisation cellulaire
Secreted.
Liens de base de données