🧬 基因注释：GBE1
📝 官方信息
官方名称：1,4-alpha-glucan branching enzyme 1
功能摘要：The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- Tardbp 综合评分: 0.356 · 证据 1 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- QKI 综合评分: 0.350 · 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
- PTBP1 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- NOVA1 综合评分: 0.262 · 证据 2 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- FUBP1 综合评分: 0.250 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录