🧬 基因注释：DYNC2LI1

官方名称：dynein cytoplasmic 2 light intermediate chain 1

功能摘要：This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017].

• HNRNPC 综合评分: 0.412 · 证据 2 条
• HNRNPH1 综合评分: 0.412 · 证据 2 条
• Tardbp 综合评分: 0.310 · 证据 1 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• KHSRP 综合评分: 0.300 · 证据 2 条
• fus 综合评分: 0.300 · 证据 1 条
• RBM15 综合评分: 0.250 · 证据 2 条
• PRPF8 综合评分: 0.200 · 证据 1 条
• U2af2 综合评分: 0.198 · 证据 1 条
• ELAVL3 综合评分: 0.162 · 证据 1 条
• Rnps1 综合评分: 0.162 · 证据 1 条
• CPSF6 综合评分: 0.150 · 证据 2 条
• CPSF7 综合评分: 0.150 · 证据 2 条
• CSTF2 综合评分: 0.150 · 证据 2 条
• Srsf1 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条
• NXF1 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录