🧬 基因注释：AGPAT2
📝 官方信息
官方名称：1-acylglycerol-3-phosphate O-acyltransferase 2
功能摘要：This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPA2B1 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
- HNRNPK 综合评分: 0.300 · 证据 2 条
- GRSF1 综合评分: 0.274 · 证据 2 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
- YBX1 综合评分: 0.224 · 证据 1 条
- AQR 综合评分: 0.212 · 证据 1 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- Rnps1 综合评分: 0.198 · 证据 1 条
- NXF1 综合评分: 0.162 · 证据 1 条
- UPF1 综合评分: 0.162 · 证据 1 条
- MSI1 综合评分: 0.150 · 证据 1 条
- Srsf3 综合评分: 0.150 · 证据 1 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CPSF1 综合评分: 0.100 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录