NTRK1
NTRK1, Neurotrophic tyrosine kinase receptor type 1, is involved in the development of the nervous system. The NTRK1 protein is responsible for regulating the proliferation, differentiation and survival of the nervous system's neurons [1]. The NTRK1 protein is an enzyme that changes the activity of other proteins by adding a cluster of oxygen or phosphorus atoms at specific positions, which is know as phosphorylation. The NTRK1 protein is activated when a nerve growth factor beta (NGFβ) binds to it and signals the NTRK1 protein to phosphorylate itself. Many of the NTRK1 gene mutations lead to the production of a NTRK1 protein that cannot be activated by phosphorylation. When the NTRK1 protein fails to be activated by phosphorylation it is unable to transmit growth and survival signals to the neurons. Without signals from the NTRK1 protein the neurons die by a process of self destruction (apoptosis). People with CIPA lose the ability to feel pain due to the loss of these sensory neurons. Some people with CIPA also lose the nerves leading to their sweat glands, which causes anhidrosis [2].
NTRK1 has a sequence 796 amino acids long. The subcellular location is in the cell membrane. There are three isoforms of NTRK1: TrkA-I, TrkA-II and TrkA-III. Isoform TrkA-I is found in most non-neuronal tissues. Isoform TrkA-II is expressed in neuronal cells. Isoform TrkA-III is expressed specifically by pluripotent neural stem and neural crest progenitors. [1]
NTRK1 has a sequence 796 amino acids long. The subcellular location is in the cell membrane. There are three isoforms of NTRK1: TrkA-I, TrkA-II and TrkA-III. Isoform TrkA-I is found in most non-neuronal tissues. Isoform TrkA-II is expressed in neuronal cells. Isoform TrkA-III is expressed specifically by pluripotent neural stem and neural crest progenitors. [1]
References
[1] "High Affinity Nerve Growth Factor Receptor Precursor - Homo Sapiens (Human)." High Affinity Nerve Growth Factor Receptor Precursor - Homo Sapiens (Human). UniProt, 6 Feb. 2013. Web. 20 Feb. 2013.
[2] "NTRK1." - Neurotrophic Tyrosine Kinase, Receptor, Type 1. U.S. National Library of Medicine, 28 Jan. 2013. Web. 04 Feb. 2013. <http://ghr.nlm.nih.gov/gene/NTRK1>.
[2] "NTRK1." - Neurotrophic Tyrosine Kinase, Receptor, Type 1. U.S. National Library of Medicine, 28 Jan. 2013. Web. 04 Feb. 2013. <http://ghr.nlm.nih.gov/gene/NTRK1>.