Gene Symbol | NTRK1 |
Entrez Gene ID | 4914 |
Full Name | neurotrophic receptor tyrosine kinase 1 |
Synonyms | MTC,TRK,TRK1,TRKA,Trk-A,p140-TrkA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes 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. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Insensitivity to pain, congenital, with anhidrosis, 256800 (3); Medullary thyroid carcinoma, familial, 155240 (3) |