NTRK1

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]该基因编码神经生长素酪氨酸激酶受体（NTKR）家族的成员。该激酶是一种膜结合型受体，在神经生长素结合后，可磷酸化自身及MAPK通路中的成员。该激酶的存在可导致细胞分化，并在指定感觉神经元亚型中发挥作用。该基因的突变与先天性痛觉缺失、无汗、自我伤害行为、认知障碍及癌症相关。目前已发现该基因的转录剪接变异体，但至今仅有三种被详细表征。[由RefSeq提供，2008年7月]