菜单 基因医生

这个基因编码一种与lon蛋白酶蛋白家族相关的蛋白质。在啮齿动物和其他哺乳动物中,这种基因产物存在于含有钙通道膜蛋白的细胞质中,被认为在大脑发育中起作用。该基因突变与常染色体隐性非综合征性精神发育迟滞有关。已发现编码该基因不同亚型的多种转录变体。
This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.

基因名:CRBN
别名:MRT2,MRT2A
基因ID:51185
Chromosome:
(GRCh37)
3 Start: 3190676 End: 3221394 Strand: -1
信号通路:  
靶向药: 来那度胺  泊马度胺 
化疗药:
CRBN 基因突变与药物