CRBN

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.

别名

MRT2,MRT2A

基因id

Chromosome:3 Start: 3190676 End: 3221394 Strand: -1

药物

突变与药物

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相关基因检测

genes