🧬 基因注释：TBX1

官方名称：T-box transcription factor 1

功能摘要：This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].

• HNRNPC 综合评分: 0.510 · 证据 2 条
• HNRNPK 综合评分: 0.362 · 证据 2 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• fus 综合评分: 0.300 · 证据 1 条
• PRPF8 综合评分: 0.262 · 证据 1 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• RBM10 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
• Rbmx 综合评分: 0.224 · 证据 1 条
• AQR 综合评分: 0.212 · 证据 1 条
• CPSF6 综合评分: 0.212 · 证据 2 条
• U2af2 综合评分: 0.198 · 证据 1 条
• CSTF2T 综合评分: 0.162 · 证据 2 条
• UPF1 综合评分: 0.162 · 证据 1 条
• ACIN1 综合评分: 0.150 · 证据 2 条

该基因暂无关联疾病记录