RET

This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]

本基因编码一种跨膜受体，属于酪氨酸蛋白激酶家族蛋白质。编码受体与配体如GDNF（胶质细胞系衍生的神经营养因子）以及其他相关蛋白质的结合，可诱导受体的二聚化及下游信号通路的激活，这些通路在细胞分化、生长、迁移和存活过程中发挥重要作用。该编码受体对于神经系统、源自神经嵴的器官和组织的发育至关重要。此原癌基因可通过染色体核型重排和激活点突变两种途径发生癌基因激活。该基因突变与Hirschsprung病和中央性呼吸抑制综合征相关，并在肾发育不全的患者中被发现。[由RefSeq提供，2017年9月]