TrkA

TrkA is a protein that in humans is encoded by the NTRK1 gene. It is a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Mutations in this gene have been associated with congenital insensitivity to pain with anhidrosis, self-mutilating behavior, mental retardation and cancer. It has a crucial role in the development and function of the nociceptive reception system as well as establishment of thermal regulation via sweating. It also activates ERK1 by either SHC1- or PLC-gamma1-dependent signaling pathway. Defects in NTRK1 are a cause of congenital insensitivity to pain with anhidrosis (CIPA).

Function

The TrkA protein is part of the large family of receptor tyrosine kinases. These receptors are responsible for receiving signals from outside the cell, which then cause a cellular response. Specifically, TrkA is involved in the growth, differentiation, and survival of neurons. It is activated by nerve growth factor (NGF), a molecule that is important for the development and survival of certain neurons.

Clinical significance

Mutations in the NTRK1 gene are associated with congenital insensitivity to pain with anhidrosis (CIPA), a condition characterized by insensitivity to pain, inability to sweat, and intellectual disability. The mutations that cause CIPA prevent the production of TrkA or result in the production of an abnormal receptor. Without functional TrkA, NGF cannot signal properly, leading to the death of sensory neurons and resulting in the signs and symptoms of CIPA.

See also

• Nerve growth factor
• Receptor tyrosine kinase
• Congenital insensitivity to pain with anhidrosis

References

TrkA Resources
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