Obesity, hyperphagia, and developmental delay, included
TrkB tyrosine kinase
Tropomyosin related kinase B
tyrosine kinase receptor B
Tyrosine receptor kinase B
Receptor for brain-derived neurotrophic factor (BDNF), neurotrophin-3 and neurotrophin-4/5 but not nerve growth factor (NGF). Involved in the development and/or maintenance of the nervous system. This is a tyrosine-protein kinase receptor. Known substrates for the TRK receptors are SHC1, PI-3 kinase, and PLC-gamma-1.
Isoform TrkB is widely expressed, mainly in the nervous tissue. In the CNS, expression is observed in the cerebral cortex, hippocampus, thalamus, choroid plexus, granular layer of the cerebellum, brain stem, and spinal cord. In the peripheral nervous system, it is expressed in many cranial ganglia, the ophtalmic nerve, the vestibular system, multiple facial structures, the submaxillary glands, and dorsal root ganglia. Isoform TrkB-T1 is expressed in multiple tissues, mainly in brain, pancreas, kidney and heart. Isoform TrkB-T-Shc is predominantly expressed in brain.
Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. Contains 2 Ig-like C2-type (immunoglobulin-like) domains. Contains 2 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. Contains 1 protein kinase domain.