🧬 基因注释：CLDN11
官方名称：claudin 11
功能摘要：This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Aug 2010].
- RBM10 综合评分: 0.312 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPD 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- Ptbp2 综合评分: 0.298 · 证据 1 条
- MBNL2 综合评分: 0.200 · 证据 1 条
- Mbnl2 综合评分: 0.200 · 证据 1 条
- Nova2 综合评分: 0.200 · 证据 1 条
- ELAVL3 综合评分: 0.162 · 证据 1 条
- GRSF1 综合评分: 0.150 · 证据 2 条
- Srsf3 综合评分: 0.150 · 证据 1 条
- RBM20 综合评分: 0.100 · 证据 2 条
- Rbpms 综合评分: 0.100 · 证据 1 条
该基因暂无关联疾病记录