🧬 基因注释：PLOD1
📝 官方信息
官方名称：procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
功能摘要：Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the 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 VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.448 · 证据 2 条
- HNRNPK 综合评分: 0.424 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPL 综合评分: 0.398 · 证据 2 条
- Srsf3 综合评分: 0.362 · 证据 1 条
- HNRNPA1 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
- FUS 综合评分: 0.300 · 证据 1 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- MATR3 综合评分: 0.262 · 证据 1 条
- PRPF8 综合评分: 0.262 · 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
- Rnps1 综合评分: 0.224 · 证据 1 条
- CSTF2 综合评分: 0.212 · 证据 2 条
- GRSF1 综合评分: 0.212 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录