🧬 基因注释：PHGDH
📝 官方信息
官方名称：phosphoglycerate dehydrogenase
功能摘要：This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011].
🎯 作为靶基因的剪接因子
- RBFOX2 综合评分: 0.514 · 证据 2 条
- HNRNPC 综合评分: 0.474 · 证据 2 条
- HNRNPH1 综合评分: 0.474 · 证据 2 条
- HNRNPA1 综合评分: 0.412 · 证据 2 条
- SRSF9 综合评分: 0.362 · 证据 1 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- U2af1 综合评分: 0.310 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 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
- KHSRP 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- Srsf3 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- Rbmx 综合评分: 0.260 · 证据 1 条
- EWSR1 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