🧬 基因注释：TWIST1

官方名称：twist family bHLH transcription factor 1

功能摘要：This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020].

• HNRNPK 综合评分: 0.362 · 证据 2 条
• RBFOX2 综合评分: 0.362 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• CSTF2 综合评分: 0.274 · 证据 2 条
• FUBP1 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
• CSTF2T 综合评分: 0.198 · 证据 2 条
• CPSF7 综合评分: 0.150 · 证据 2 条
• MSI1 综合评分: 0.150 · 证据 1 条
• Srsf2 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
• EIF4A3 综合评分: 0.100 · 证据 2 条
• ELAVL3 综合评分: 0.100 · 证据 1 条
• NXF1 综合评分: 0.100 · 证据 1 条
• Rbmx 综合评分: 0.100 · 证据 1 条
• Rbpms 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录