🧬 基因注释：GYG1
📝 官方信息
官方名称：glycogenin 1
功能摘要：This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010].
🎯 作为靶基因的剪接因子
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- Tardbp 综合评分: 0.392 · 证据 1 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- ELAVL3 综合评分: 0.224 · 证据 1 条
- UPF1 综合评分: 0.224 · 证据 1 条
- U2af1 综合评分: 0.212 · 证据 1 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- U2af2 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
- PABPC4 综合评分: 0.150 · 证据 2 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- RBM20 综合评分: 0.100 · 证据 2 条
- Rbmx 综合评分: 0.100 · 证据 1 条
- Rbpms 综合评分: 0.100 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录