🧬 基因注释:GANAB
📝 官方信息
官方名称:glucosidase II alpha subunit
功能摘要:This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016].
🎯 作为靶基因的剪接因子
- PTBP1 综合评分: 0.496 · 证据 2 条
- HNRNPH1 综合评分: 0.494 · 证据 2 条
- FUS 综合评分: 0.486 · 证据 1 条
- HNRNPK 综合评分: 0.486 · 证据 2 条
- fus 综合评分: 0.486 · 证据 1 条
- Tardbp 综合评分: 0.482 · 证据 1 条
- RBFOX2 综合评分: 0.444 · 证据 2 条
- TIA1 综合评分: 0.374 · 证据 1 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 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
- Rnps1 综合评分: 0.322 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 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
- SRSF9 综合评分: 0.300 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录