基因名称：MAPKBP1 （mitogen-activated protein kinase binding protein 1）
别名： JNKBP1,NPHP20,JNKBP-1
基因ID：23005
Chromosome(GRCh37) ：15 Start: 42066632 End: 42120053 Strand:
信号通路：
靶向药：
化疗药：
简介：该基因编码一种支架蛋白，调节JNK（c-Jun N N-末端激酶）和NOD2（含蛋白2的核苷酸结合寡聚结构域）信号通路编码蛋白通过保守的二聚结构域与另一相关的JNK途径支架蛋白WDR62相互作用，增强JNK信号传导该蛋白可能通过与nod2受体结合并负调控下游的抗菌和促炎信号，在细菌免疫中发挥作用。这种基因的突变会损害编码蛋白的细胞定位，导致人类患者出现一种常染色体隐性肾病。[由RefSeq提供，2017年5月]This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This protein may play a role in bacterial immunity by binding to the NOD2 receptor and negatively regulating downstream antibacterial and pro-inflammatory signaling. Mutations in this gene that impair cellular localization of the encoded protein cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017]
MAPKBP1突变与药物：
