🧬 基因注释：LDHB
📝 官方信息
官方名称：lactate dehydrogenase B
功能摘要：This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on chromosomes X, 5 and 13. [provided by RefSeq, Feb 2016].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.510 · 证据 2 条
- FUS 综合评分: 0.506 · 证据 1 条
- fus 综合评分: 0.506 · 证据 1 条
- Tardbp 综合评分: 0.505 · 证据 1 条
- RBFOX2 综合评分: 0.486 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPH1 综合评分: 0.412 · 证据 2 条
- HNRNPD 综合评分: 0.362 · 证据 2 条
- HNRNPF 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- QKI 综合评分: 0.350 · 证据 1 条
- MBNL2 综合评分: 0.344 · 证据 1 条
- U2af1 综合评分: 0.324 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- RBM15 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 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
🏥 关联疾病
该基因暂无关联疾病记录