🧬 基因注释：PLOD3
📝 官方信息
官方名称：procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
功能摘要：The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [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
- FUS 综合评分: 0.362 · 证据 1 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- fus 综合评分: 0.362 · 证据 1 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- PCBP2 综合评分: 0.324 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- UPF1 综合评分: 0.296 · 证据 1 条
- Rnps1 综合评分: 0.286 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- SF3A3 综合评分: 0.262 · 证据 1 条
- YBX1 综合评分: 0.260 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- AQR 综合评分: 0.248 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录