NTRK1

Name

neurotrophic receptor tyrosine kinase 1

Type

protein-coding

Position

156,815,636–156,881,850 (+)

Aliases

MTC, TRK, TRK1, TRKA, Trk-A, p140-TrkA

Ensembl

ENSG00000198400

RefSeq RNA

NM_001007792.1, NM_001012331.2, NM_002529.4

RefSeq protein

NP_001007793.1, NP_001012331.1, NP_002520.2

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].